Figure 4.

Comparison of the ensemble SV calls to the phase 3 call set

(A) Count of SV sites in the current ensemble SV call set and phase 3 SV call set and their overlap. Numbers next to each bar represent the counts of SV sites in each dataset.

(B) The distribution of SV counts per sample in both call sets and their average overlap, displayed in the Venn diagram.

(C) Count of genes altered by SVs in both datasets. pLoF, predicted loss of function; CG, complete copy gain; IED, intragenic exon duplication.

(D) Count of genes altered by SVs across ancestral populations.

See also Figure S5.