u/Neuron-nomad

Not for medical purposes, just a project out of interest in the field.

Looking for help. I'm trying to figure out whether this means there's a deletion (from one parent) or not. The UGT2B17 gene deletion is somewhat common. Here you can see the read depth is significantly lower than the surrounding area of UGT2B17, but there's also quite a few SNP mutations within that area that shows a split between variants (e.g. 70% G, 30% C).

Isn't that contradictory of a heterozygous deletion?

Any literature or courses I can access to teach myself genetics and how to interpret this stuff?

Thanks!