Skip to main content
. 2020 Jul 9;182(1):189–199.e15. doi: 10.1016/j.cell.2020.05.024

Table 1.

Allele Frequencies of Regionally Stratified Variants Shared with High-Coverage Archaic Genomes but Not Found in African Populations

Position Size (bp) Variant EUR CSA EA ME AMR OCE Gene PBS Rank (%) Neanderthal Denisova
chr1: 64992619–64992994 375 DEL 0 0 0 0 0 0.44 JAK1a 98.4 REF DEL
chr2:3684113–3690212 6,099 DEL 0.02 0.003 0.05 0.03 0 0.26 ALLCa 90.3 DEL Vindija REF
chr3:177287011–177292441 5,430 DEL 0 0 0 0 0 0.39 LINC00501 97.7 REF DEL
chr8:23124835–23130567 5,732 DEL 0 0.02 0 0 0 0.36 TNFRSF10D 96.8 DEL REF
chr8:23134649–23164796 30,147 DUP 0 0 0 0 0 0.48 TNFRSF10Da 99 DUP DUP
chr11:60460681–60461880 1,199 DEL 0 0 0.02 0 0.17 0 MS4A1a DEL REF
chr12:101882163–101883377 1,214 DEL 0.02 0.08 0.32 0.01 0.01 0.33 DRAM1a DEL REF
chr12:104799951–104803150 3,199 DUP 0.003 0.009 0 0.01 0 0.33 SLC41A2a 96.8 DUP REF
chr15:34920811–34925992 5,181 DEL 0 0 0 0 0 0.63 AQRa 99.8 REF DEL
chr16p12.2 complex DUP 0 0 0 0 0 0.82 multiple 99.99 REF DUP
chr16:75059992–75060055 63 DEL 0 0 0 0 0 0.34 ZNRF1a 96.4 DEL DEL
chr17:3038851–3041981 3,130 DEL 0 0 0 0 0 0.16 RAP1GAP2 86.1 DEL DEL
chr19:42529806–42531042 1,236 DEL 0 0 0 0 0 0.54 CEACAM1a 99.4 DEL DEL

Neanderthal refers to both published high-coverage genomes. The deletion within ALLC is only shared with the Vindija Neanderthal. The TNFRSF10D duplication common in Oceania is also present at low frequency (5%) in Africa. Africans do not have both deletion and duplication variants, which are in linkage disequilibrium in Oceanians (r2 = 0.48). The duplications at chr16p12.2 at high frequency in Oceania (82%) are part of a complex structural variant (Figures S6 and S7). Population branch statistic (PBS) rank is presented for stratified variants common only in Oceania. REF, Reference; DEL, Deletion; DUP, Duplication; EUR, Europe; EA, East Asia; ME, Middle East; AMR, America; CSA, Central South Asia; OCE, Oceania.

a

A variant that lies within or intersects a gene; otherwise, the nearest gene is presented.