Figure 3.

Copy Number Expansions and Runaway Duplications

The red bars illustrate the location of the expansion. Additional examples are shown in Figure S5.

(A) Expansion in HPR in African and Middle Eastern samples.

(B) Expansions upstream of OR7D2 that are mostly restricted to East Asia. The observed expansions in Central and South Asian samples are all in Hazara samples, an admixed population carrying East Asian ancestry.

(C) Expansions within HCAR2 that are particularly common in the Kalash population.

(D) Expansions in SULT1A1 that are pronounced in Oceanians (median copy number, 4; all other non-African continental groups, 2; Africa, 3).

(E) Expansions in ORM1/ORM2. This expansion has been reported previously in Europeans (Handsaker et al., 2015); however, we found it in all regional groups and particularly in Middle Eastern populations.

(F) Expansions in PRB4 that are restricted to Africa and Central and South Asian samples with significant African admixture (Makrani and Sindhi).