CNVs from Exome Aggregation Consortium (ExAC) added to dbVar in September 2017 data release


Copy number variants (CNVs) from ExAC’s publication are now available at dbVar as nstd151. The data include approximately 50,000 CNV regions identified from 60,000 human exomes, providing a deep survey of common and rare copy number variation affecting protein-coding sequences in the human genome.

dbVar provides FTP files in VCF, GVF, and CSV formats, and include placements on GRCh37 as well as remapped placements on GRCh38. Tutorials for working with different formats are also available.

Follow the dbVar RSS feed for information on monthly releases.

One thought on “CNVs from Exome Aggregation Consortium (ExAC) added to dbVar in September 2017 data release

  1. Pingback: CNVs from Exome Aggregation Consortium (ExAC) added to dbVar in September 2017 data release – Science

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