V4.0 AN issue: word document explaining AN bug

General
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1

Hello! I have a question related to the v4.0 AN issue word document available on the website, regarding to this sentence:

This variant (21-42201626-T-G) is present in a single non-UKB exome sample. This locus is well covered in v4, with 94% of samples covered above 20x, but the AN for this variant is only 595,402, suggesting that fewer than 300,000 samples have a genotype call at this site.

Maybe there’s a mistake and it should say "suggesting that fewer than 300,000 samples DO NOT have a genotype call at this site.** instead?

Thanks in advance!

2

I think this is correct. The AN is double the sample size for autosomal sites so if the AN is 595,402, that suggests half that many samples which is close to 300,000.

3

Thank you very much, it totally makes sense!