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Annotations Known Issues

gnomAD Genomes Variant Frequencies 3.1.2 GRCh37/38

The gnomAD Genomes Variant Frequencies 3.1.2 GRCh37 and GRCh38 annotation sources were curated with a truncation at the end of chromosome 12. Roughly 4.3 Mbp are missing from chromosome 12, which is about 8-10% of the chromosome.

Resolution: We are currently re-curating both of these sources with a complete chromosome 12. A version 2 of gnomAD Genomes Variant Frequencies 3.1.2 will be available shortly, and will automatically notify the user that the new version is available to replace the version that has the chromosome 12 truncation.

Updated on March 29, 2022

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