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ICR96 exon CNV validation series

A resource for assessment of exon CNV calling methods in targeted NGS data, we here present the ICR96 exon CNV validation series. The dataset includes high-quality sequencing data from a targeted NGS assay (the TruSight Cancer Panel) together with Multiplex Ligation-dependent Probe Amplification (MLPA) results for 96 independent samples. 66 samples contain at least one validated exon CNV and 30 samples have validated negative results for exon CNVs in 26 genes. The dataset includes 46 exon CNVs in BRCA1, BRCA2, TP53, MLH1, MSH2, MSH6, PMS2, EPCAM and PTEN, giving excellent representation of the cancer predisposition genes most frequently tested in clinical practice. Moreover, the validated exon CNVs include 25 single exon CNVs the most difficult exon CNV to detect.

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Accessing ICR-GSR data archived in EGA

ICR - Genetic Susceptibility Research (ICR-GSR)Data Access CommitteeAccession number: EGAC00001000235Details of the ICR-GSR Data Access Committee are available for each of the datasets accessible via www.icr.ac.uk/genetic-resourcesAlternatively, please email rahmanlab@icr.ac.uk, giving the above Accession number in the subject line, to request an Application Form for access. This should be completed and and returned to rahmanlab@icr.ac.uk. Applications will only be accepted electronically. Any queries regarding access procedures or completion of the forms should be sent to this email address. Once access has been approved, an agreement will need to be completed. A signed hard copy of the agreement should e-mailed, faxed or posted to: Professor Nazneen Rahman The Institute of Cancer Research, London Division of Genetics & Epidemiology 15 Cotswold Road Sutton SM2 5NG UNITED KINGDOMEmail: rahmanlab@icr.ac.uk Fax: =44(0)20 8722 4359

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002428 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00001592737 fastq.gz 228.9 MB
EGAF00001592738 fastq.gz 233.7 MB
EGAF00001592739 fastq.gz 218.9 MB
EGAF00001592740 fastq.gz 225.4 MB
EGAF00001592741 fastq.gz 156.0 MB
EGAF00001592742 fastq.gz 159.2 MB
EGAF00001592743 fastq.gz 240.8 MB
EGAF00001592744 fastq.gz 250.7 MB
EGAF00001592745 fastq.gz 233.9 MB
EGAF00001592746 fastq.gz 242.1 MB
EGAF00001592747 fastq.gz 360.0 MB
EGAF00001592748 fastq.gz 373.5 MB
EGAF00001592749 fastq.gz 190.8 MB
EGAF00001592750 fastq.gz 196.2 MB
EGAF00001592751 fastq.gz 303.0 MB
EGAF00001592753 fastq.gz 258.3 MB
EGAF00001592754 fastq.gz 263.4 MB
EGAF00001592755 fastq.gz 310.6 MB
EGAF00001592756 fastq.gz 320.0 MB
EGAF00001592757 fastq.gz 271.0 MB
EGAF00001592758 fastq.gz 278.5 MB
EGAF00001592759 fastq.gz 235.3 MB
EGAF00001592760 fastq.gz 244.4 MB
EGAF00001592761 fastq.gz 370.8 MB
EGAF00001592762 fastq.gz 385.5 MB
EGAF00001592763 fastq.gz 361.9 MB
EGAF00001592764 fastq.gz 374.6 MB
EGAF00001592765 fastq.gz 331.4 MB
EGAF00001592766 fastq.gz 344.3 MB
EGAF00001592767 fastq.gz 383.0 MB
EGAF00001592768 fastq.gz 395.2 MB
EGAF00001592769 fastq.gz 244.3 MB
EGAF00001592770 fastq.gz 254.5 MB
EGAF00001592771 fastq.gz 300.0 MB
EGAF00001592772 fastq.gz 312.2 MB
EGAF00001592773 fastq.gz 270.0 MB
EGAF00001592774 fastq.gz 279.6 MB
EGAF00001592775 fastq.gz 311.9 MB
EGAF00001592776 fastq.gz 327.7 MB
EGAF00001592777 fastq.gz 320.9 MB
EGAF00001592778 fastq.gz 334.0 MB
EGAF00001592779 fastq.gz 350.1 MB
EGAF00001592780 fastq.gz 365.5 MB
EGAF00001592781 fastq.gz 350.6 MB
EGAF00001592782 fastq.gz 367.1 MB
EGAF00001592783 fastq.gz 354.5 MB
EGAF00001592784 fastq.gz 369.9 MB
EGAF00001592785 fastq.gz 335.1 MB
EGAF00001592786 fastq.gz 335.1 MB
EGAF00001592787 fastq.gz 405.6 MB
EGAF00001592788 fastq.gz 418.1 MB
EGAF00001592789 fastq.gz 364.6 MB
EGAF00001592790 fastq.gz 374.6 MB
EGAF00001592791 fastq.gz 176.3 MB
EGAF00001592792 fastq.gz 182.9 MB
EGAF00001592793 fastq.gz 353.7 MB
EGAF00001592794 fastq.gz 366.3 MB
EGAF00001592795 fastq.gz 458.8 MB
EGAF00001592796 fastq.gz 474.4 MB
EGAF00001592797 fastq.gz 387.8 MB
EGAF00001592798 fastq.gz 420.8 MB
EGAF00001592799 fastq.gz 457.1 MB
EGAF00001592800 fastq.gz 470.9 MB
EGAF00001592801 fastq.gz 321.0 MB
EGAF00001592802 fastq.gz 325.3 MB
EGAF00001592803 fastq.gz 381.0 MB
EGAF00001592804 fastq.gz 392.9 MB
EGAF00001592805 fastq.gz 390.7 MB
EGAF00001592806 fastq.gz 401.4 MB
EGAF00001592807 fastq.gz 400.0 MB
EGAF00001592808 fastq.gz 416.8 MB
EGAF00001592809 fastq.gz 444.4 MB
EGAF00001592810 fastq.gz 459.8 MB
EGAF00001592811 fastq.gz 641.4 MB
EGAF00001592812 fastq.gz 666.8 MB
EGAF00001592813 fastq.gz 486.1 MB
EGAF00001592814 fastq.gz 504.7 MB
EGAF00001592815 fastq.gz 474.0 MB
EGAF00001592816 fastq.gz 488.4 MB
EGAF00001592817 fastq.gz 305.4 MB
EGAF00001592818 fastq.gz 309.6 MB
EGAF00001592819 fastq.gz 376.5 MB
EGAF00001592820 fastq.gz 387.0 MB
EGAF00001592821 fastq.gz 373.2 MB
EGAF00001592822 fastq.gz 384.0 MB
EGAF00001592823 fastq.gz 417.8 MB
EGAF00001592824 fastq.gz 438.9 MB
EGAF00001592825 fastq.gz 335.8 MB
EGAF00001592826 fastq.gz 345.3 MB
EGAF00001592827 fastq.gz 400.2 MB
EGAF00001592828 fastq.gz 413.8 MB
EGAF00001592829 fastq.gz 183.4 MB
EGAF00001592830 fastq.gz 188.6 MB
EGAF00001592831 fastq.gz 396.4 MB
EGAF00001592832 fastq.gz 409.6 MB
EGAF00001592833 fastq.gz 435.2 MB
EGAF00001592834 fastq.gz 450.9 MB
EGAF00001592835 fastq.gz 376.8 MB
EGAF00001592836 fastq.gz 391.4 MB
EGAF00001592837 fastq.gz 356.3 MB
EGAF00001592838 fastq.gz 371.2 MB
EGAF00001592839 fastq.gz 334.0 MB
EGAF00001592840 fastq.gz 353.1 MB
EGAF00001592841 fastq.gz 336.6 MB
EGAF00001592842 fastq.gz 349.0 MB
EGAF00001592843 fastq.gz 397.3 MB
EGAF00001592844 fastq.gz 413.6 MB
EGAF00001592845 fastq.gz 346.4 MB
EGAF00001592846 fastq.gz 359.6 MB
EGAF00001592847 fastq.gz 376.7 MB
EGAF00001592848 fastq.gz 389.5 MB
EGAF00001592849 fastq.gz 358.7 MB
EGAF00001592850 fastq.gz 373.1 MB
EGAF00001592851 fastq.gz 319.9 MB
EGAF00001592852 fastq.gz 332.3 MB
EGAF00001592853 fastq.gz 288.0 MB
EGAF00001592854 fastq.gz 299.0 MB
EGAF00001592855 fastq.gz 287.9 MB
EGAF00001592856 fastq.gz 304.1 MB
EGAF00001592857 fastq.gz 281.3 MB
EGAF00001592858 fastq.gz 292.6 MB
EGAF00001592859 fastq.gz 321.9 MB
EGAF00001592860 fastq.gz 335.7 MB
EGAF00001592861 fastq.gz 300.4 MB
EGAF00001592862 fastq.gz 314.0 MB
EGAF00001592863 fastq.gz 389.7 MB
EGAF00001592864 fastq.gz 405.9 MB
EGAF00001592865 fastq.gz 298.6 MB
EGAF00001592866 fastq.gz 312.9 MB
EGAF00001592867 fastq.gz 264.3 MB
EGAF00001592868 fastq.gz 275.9 MB
EGAF00001592869 fastq.gz 248.9 MB
EGAF00001592870 fastq.gz 258.2 MB
EGAF00001592871 fastq.gz 279.5 MB
EGAF00001592872 fastq.gz 297.2 MB
EGAF00001592873 fastq.gz 287.6 MB
EGAF00001592874 fastq.gz 298.9 MB
EGAF00001592875 fastq.gz 307.7 MB
EGAF00001592876 fastq.gz 322.4 MB
EGAF00001592877 fastq.gz 315.4 MB
EGAF00001592878 fastq.gz 330.6 MB
EGAF00001592879 fastq.gz 316.6 MB
EGAF00001592880 fastq.gz 329.1 MB
EGAF00001592881 fastq.gz 275.9 MB
EGAF00001592882 fastq.gz 281.1 MB
EGAF00001592883 fastq.gz 223.6 MB
EGAF00001592884 fastq.gz 228.5 MB
EGAF00001592885 fastq.gz 273.0 MB
EGAF00001592886 fastq.gz 281.8 MB
EGAF00001592887 fastq.gz 303.1 MB
EGAF00001592888 fastq.gz 321.9 MB
EGAF00001592889 fastq.gz 267.6 MB
EGAF00001592890 fastq.gz 278.3 MB
EGAF00001592891 fastq.gz 365.3 MB
EGAF00001592892 fastq.gz 378.6 MB
EGAF00001592893 fastq.gz 297.5 MB
EGAF00001592894 fastq.gz 317.5 MB
EGAF00001592895 fastq.gz 409.9 MB
EGAF00001592896 fastq.gz 424.5 MB
EGAF00001592897 fastq.gz 289.9 MB
EGAF00001592898 fastq.gz 298.7 MB
EGAF00001592899 fastq.gz 284.0 MB
EGAF00001592900 fastq.gz 292.9 MB
EGAF00001592901 fastq.gz 267.2 MB
EGAF00001592902 fastq.gz 274.5 MB
EGAF00001592903 fastq.gz 266.0 MB
EGAF00001592904 fastq.gz 279.3 MB
EGAF00001592905 fastq.gz 301.3 MB
EGAF00001592906 fastq.gz 312.5 MB
EGAF00001592907 fastq.gz 353.6 MB
EGAF00001592908 fastq.gz 366.0 MB
EGAF00001592909 fastq.gz 286.6 MB
EGAF00001592910 fastq.gz 294.1 MB
EGAF00001592911 fastq.gz 374.7 MB
EGAF00001592912 fastq.gz 388.3 MB
EGAF00001592913 fastq.gz 279.5 MB
EGAF00001592914 fastq.gz 289.3 MB
EGAF00001592915 fastq.gz 287.0 MB
EGAF00001592916 fastq.gz 297.2 MB
EGAF00001592917 fastq.gz 231.3 MB
EGAF00001592918 fastq.gz 239.0 MB
EGAF00001592919 fastq.gz 236.4 MB
EGAF00001592920 fastq.gz 249.0 MB
EGAF00001592921 fastq.gz 258.6 MB
EGAF00001592922 fastq.gz 268.5 MB
EGAF00001592923 fastq.gz 267.7 MB
EGAF00001592924 fastq.gz 277.2 MB
EGAF00001592925 fastq.gz 269.6 MB
EGAF00001592926 fastq.gz 280.5 MB
EGAF00001592927 fastq.gz 296.7 MB
EGAF00001592928 fastq.gz 308.6 MB
191 Files (62.9 GB)