[ensembl-dev] Common homo sapiens CNV databas

Anja Thormann anja at ebi.ac.uk
Wed Dec 20 16:44:37 GMT 2017

Hello Jessie,

homo_sapiens.vcf contains SNVs and indels.

CNVs are contained in homo_sapiens_structural_variations.vcf. The SVTYPE in the info field for CNVs is copy_number_variation, copy_number_gain or copy_number_loss.


> On 20 Dec 2017, at 16:30, Jessie Poquérusse <jessie.poquerusse at gmail.com> wrote:
> Hello!
> Does your homo_sapiens.vcf.gz file contain SNVs and indels? What about CNVs? I am trying to get ahold of all common SNVs, indels, CNVs and structural variations (the latter being clearly covered by your homo_sapiens_structural_variations.vcf.gz file).
> Thanks!
> Best,
> Jessie
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