About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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HG001 dataset

The following dataset contains chromosome 22 alignment file and whole genome variant calls for sample HG001 from 1KGP. Analyses were performed using GRCh38 reference genome. BWA was used for the genomic alignment. GATK4 for variant calling

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DUO:0000006
version: 2021-02-23

health or medical or biomedical research

This data use permission indicates that use is allowed for health/medical/biomedical purposes; does not include the study of population origins or ancestry.

DUO:0000028
version: 2021-02-23

institution specific restriction

This data use modifier indicates that use is limited to use within an approved institution.

Research-only at French DEMO institute

Text for Access Policy for research use @Demo only.

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
EGAS50000000546 Whole Genome Sequencing

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 Quality Report
EGAF50000106636 vcf.gz 269.5 MB
1 File (269.5 MB)