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. 2019 Dec 20;106(1):26–40. doi: 10.1016/j.ajhg.2019.11.010

Figure 2.

Figure 2

Ethnicity and Constituency of Variants in the 1,053 22q11.2DS Cohort

(A) Scatterplot of the first PC (EV = 100.97) versus the second PC (EV = 52.41) calculated from PCA based on common independent shared variants in the 22q11.2DS cohort (aqua color) and HapMap 3 r3 samples (International HapMap project phase III release 3, including 1,397 individuals from 11 populations across the globe; colored based upon the population). ASW, African ancestry in Southwest USA; CEU, Utah residents with ancestry from northern and western Europe; CHB, Han Chinese in Beijing, China; CHD, Chinese in Metropolitan Denver, Colorado; GIH, Gujarati Indians in Houston, Texas; JPT, Japanese in Tokyo, Japan; LWK, Luhya in Webuye, Kenya; MEX, Mexican ancestry in Los Angeles, California; MKK, Maasai in Kinyawa, Kenya; TSI (T): Tuscan in Italy; YRI (Y), Yoruba in Ibadan, Nigeria (West Africa).

(B) Frequency distribution of 14,158 variants that passed QC measures. In total, there are 9,821 rare variants with AAF < 0.01, 1,380 low-frequency variants (AAF between 0.01-0.05), and 2,957 common variants (AAF > 0.05).