[ensembl-dev] Dataset of common SNPs/indels & CNVs/SVs
Jessie Poquérusse
jessie.poquerusse at gmail.com
Fri Dec 22 10:54:10 GMT 2017
Hello,
I'm having a hard time getting my hands on the best, most recent VCF
datasets, mapped to GRCh38/hg38, of SNP/indel and CNV/SV variations, which
I could then filter according to commonality in the general population to
obtain a list of common-only variants. My question is thus two-fold:
1) What is the best source for such variations, and
2) Are there any instructions on how the variant frequency is encoded (does
it correspond to E_freq, as per
ftp://ftp.ensembl.org/pub/release-91/variation/vcf/homo_sapiens/README),
and how to filter for this?
I realize I've asked a version of this question a few days ago, but now
would love more details.
Thank-you & happy holidays!
Best,
Jessie
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