Table 1. HsInv0379 genotyping and frequency in different populations.
Number of individuals genotyped by PCR across inversion breakpoints, tag SNPs in high linkage disequilibrium with the inversion, and sequence reads spanning inversion breakpoints (BreakSeq). The number of unrelated individuals genotyped is also given together with genotype counts and allelic frequencies for each analyzed population.
| Population code | Population description (Sample panel) | PCR | Tag SNPs | BreakSeq | Genotyped unrelated | Std/Std | Std/Inv | Inv/Inv | Inv freq |
|---|---|---|---|---|---|---|---|---|---|
| East Asian (ASN) | |||||||||
| CHB | Han Chinese in Beijing, China (HapMapPT02) | 48 | 105 | 62 | 110 | 104 | 6 | 0 | 0.0273 |
| JPT | Japanese in Tokyo, Japan (HapMapPT02) | 47 | 105 | 47 | 104 | 99 | 5 | 0 | 0.0240 |
| CHS | Southern Han Chinese | 0 | 113 | 31 | 111 | 98 | 13 | 0 | 0.0586 |
| CDX | Chinese Dai in Xishuangbanna, China | 1 | 99 | 13 | 93 | 79 | 13 | 1 | 0.0806 |
| KHV | Kinh in Ho Chi Minh City, Vietnam | 0 | 101 | 2 | 99 | 87 | 12 | 0 | 0.0606 |
| Malay | Malays from Singapore | 0 | 96 | 0 | 96 | 89 | 7 | 0 | 0.0365 |
| South Asian (SAN) | |||||||||
| GIH | Gujarati Indian from Houston, Texas (HapMapV15) | 90 | 106 | 0 | 109 | 109 | 0 | 0 | 0 |
| PJL | Punjabi from Lahore, Pakistan | 0 | 96 | 0 | 96 | 96 | 0 | 0 | 0 |
| BEB | Bengali from Bangladesh | 0 | 86 | 0 | 86 | 85 | 1 | 0 | 0.0058 |
| STU | Sri Lankan Tamil from the UK | 0 | 103 | 0 | 101 | 101 | 0 | 0 | 0 |
| ITU | Indian Telugu from the UK | 0 | 103 | 0 | 102 | 102 | 0 | 0 | 0 |
| European (EUR) | |||||||||
| CEU | Utah Residents (CEPH) with Northern and Western European ancestry (HapMapPT01) | 90 | 103 | 62 | 115 | 115 | 0 | 0 | 0 |
| TSI | Toscani in Italia (HapMapV14) | 88 | 110 | 87 | 109 | 109 | 0 | 0 | 0 |
| FIN | Finnish in Finland | 0 | 103 | 22 | 103 | 103 | 0 | 0 | 0 |
| GBR | British in England and Scotland | 0 | 99 | 32 | 98 | 98 | 0 | 0 | 0 |
| IBS | Iberian population in Spain | 0 | 107 | 1 | 107 | 107 | 0 | 0 | 0 |
| African (AFR) | |||||||||
| YRI | Yoruba in Ibadan, Nigeria (HapMapPT03) | 89 | 111 | 58 | 120 | 120 | 0 | 0 | 0 |
| LWK | Luhya in Webuye, Kenya (HapMapV12) | 88 | 115 | 9 | 113 | 113 | 0 | 0 | 0 |
| ASW | Americans of African Ancestry in Southwest USA | 0 | 68 | 23 | 59 | 59 | 0 | 0 | 0 |
| GWD | Gambian in Western Divisions in The Gambia | 0 | 113 | 0 | 113 | 113 | 0 | 0 | 0 |
| MSL | Mende in Sierra Leone | 0 | 85 | 0 | 85 | 85 | 0 | 0 | 0 |
| ESN | Esan in Nigeria | 0 | 99 | 0 | 99 | 99 | 0 | 0 | 0 |
| ACB | African Caribbeans in Barbados | 0 | 96 | 2 | 86 | 86 | 0 | 0 | 0 |
| American (AMR) | |||||||||
| MXL | Mexican Ancestry from Los Angeles, USA | 0 | 71 | 25 | 68 | 67 | 1 | 0 | 0.0074 |
| PUR | Puerto Ricans from Puerto Rico | 0 | 105 | 6 | 104 | 104 | 0 | 0 | 0 |
| CLM | Colombians from Medellin, Colombia | 0 | 96 | 0 | 96 | 96 | 0 | 0 | 0 |
| PEL | Peruvians from Lima, Peru | 0 | 86 | 0 | 85 | 85 | 0 | 0 | 0 |
| TOTAL | All populations | 541 | 2680 | 482 | 2667 | 2608 | 58 | 1 | 0.0112 |
| TOTAL | East Asian populations | 96 | 619 | 155 | 613 | 556 | 56 | 1 | 0.0473 |