Table 2.
Frequency of the TED in Worldwide Populations
| Populationa | Sample Size | Zero-Copy Samples (Count) | One-Copy Samples (Count) | Two-Copy Samples (Count) | Methodb | Source |
|---|---|---|---|---|---|---|
| ASW | 87 | 0% (0) | 0% (0) | 100% (87) | microarray | HapMap |
| CEU | 177 | 0% (0) | 0% (0) | 100% (177) | microarray | HapMap |
| CHB | 89 | 0% (0) | 6.7% (6) | 93.3% (83) | microarray | HapMap |
| CHD | 90 | 0% (0) | 2.2% (2) | 97.8% (88) | microarray | HapMap |
| GIH | 90 | 0% (0) | 0% (0) | 100% (90) | microarray | HapMap |
| JPT | 91 | 0% (0) | 5.5% (5) | 94.5% (86) | microarray | HapMap |
| LWK | 90 | 0% (0) | 0% (0) | 100% (90) | microarray | HapMap |
| MXL | 84 | 0% (0) | 0% (0) | 100% (84) | microarray | HapMap |
| MKK | 179 | 0% (0) | 0% (0) | 100% (179) | microarray | HapMap |
| TSI | 90 | 0% (0) | 0% (0) | 100% (90) | microarray | HapMap |
| YRI | 180 | 0% (0) | 0% (0) | 100% (180) | microarray | HapMap |
| KOR | 100 | 0% (0) | 4.0% (4) | 96.0% (96) | microarray | this study |
| Malay | 18 | 0% (0) | 0% (0) | 100% (18) | microarray | Mokhtar et al.16 |
| Senoi | 17 | 0% (0) | 0% (0) | 100% (17) | microarray | Mokhtar et al.16 |
| Negrito | 12 | 0% (0) | 0% (0) | 100% (12) | microarray | Mokhtar et al.16 |
| Han Chinese | 80 | 0% (0) | 7.5% (6) | 92.5% (74) | microarray | Lou et al.17 |
| Yao | 8 | 0% (0) | 0% (0) | 100% (8) | microarray | Lou et al.17 |
| Zhuang | 6 | 0% (0) | 0% (0) | 100% (6) | microarray | Lou et al.17 |
| Dong | 9 | 0% (0) | 0% (0) | 100% (9) | microarray | Lou et al.17 |
| Li | 8 | 0% (0) | 0% (0) | 100% (8) | microarray | Lou et al.17 |
| TIB1 | 27 | 55.6% (15) | 40.7% (11) | 3.7% (1) | microarray | Simonson et al.4 |
| TIB2 | 44 | 43.2% (19) | 50.0% (22) | 6.8% (3) | microarray | Peng et al.6 |
| TIB3 | 46 | 54.3% (25) | 39.1% (18) | 6.5% (3) | microarray | Xu et al.7 |
| Han Chinese | 50 | 0% (0) | 4.0% (2) | 96.0% (48) | LP and SS | this study |
| Kazakh | 50 | 0% (0) | 4.0% (2) | 96.0% (48) | LP and SS | this study |
| Uyghur | 50 | 0% (0) | 4.0% (2) | 96.0% (48) | LP and SS | this study |
| Hui | 11 | 0% (0) | 9.1% (1) | 90.9% (10) | LP and SS | this study |
| Khirghiz | 7 | 0% (0) | 0% (0) | 100% (7) | LP and SS | this study |
| Mongolian | 8 | 0% (0) | 0% (0) | 100% (8) | LP and SS | this study |
| Ozbek | 2 | 0% (0) | 0% (0) | 100% (2) | LP and SS | this study |
| Tatar | 2 | 0% (0) | 0% (0) | 100% (2) | LP and SS | this study |
| Tujia | 1 | 0% (0) | 0% (0) | 100% (1) | LP and SS | this study |
| Xibe | 1 | 0% (0) | 0% (0) | 100% (1) | LP and SS | this study |
| TIB4 | 70 | 61.4% (43) | 27.1% (19) | 11.4% (8) | LP and SS | this study |
| ASW | 61 | 0% | 0% | 100% (61) | NGS | Abecasis et al.15 |
| CEU | 85 | 0% | 0% | 100% (85) | NGS | Abecasis et al.15 |
| CHB | 97 | 0% | 4.1% (4) | 95.9% (93) | NGS | Abecasis et al.15 |
| CHS | 100 | 0% | 1.0% (1) | 99.0% (99) | NGS | Abecasis et al.15 |
| CLM | 60 | 0% | 0% | 100% (60) | NGS | Abecasis et al.15 |
| FIN | 93 | 0% | 0% | 100% (93) | NGS | Abecasis et al.15 |
| GBR | 89 | 0% | 0% | 100% (89) | NGS | Abecasis et al.15 |
| IBS | 14 | 0% | 0% | 100% (14) | NGS | Abecasis et al.15 |
| JPT | 89 | 0% | 7.9% (7) | 92.1% (82) | NGS | Abecasis et al.15 |
| LWK | 97 | 0% | 0% | 100% (97) | NGS | Abecasis et al.15 |
| MXL | 66 | 0% | 0% | 100% (66) | NGS | Abecasis et al.15 |
| PUR | 55 | 0% | 0% | 100% (55) | NGS | Abecasis et al.15 |
| TSI | 98 | 0% | 0% | 100% (98) | NGS | Abecasis et al.15 |
| YRI | 88 | 0% | 0% | 100% (88) | NGS | Abecasis et al.15 |
| Dinka | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Mbuti | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| French | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Papuan | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Sardinian | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Karitians | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| San | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Mandenka | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Yoruba | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Dai | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Han Chinese | 1 | 0% (0) | 0% (0) | 100% (1) | NGS | Meyer et al.40 |
| Sherpa | 2 | 100% (2) | 0% (0) | 0% (0) | NGS | Jeong et al.41 |
| TIB-Seq | 7 | 57.1% (4) | 42.9% (3) | 0% (0) | NGS | this study |
Abbreviations are as follows: LP, long PCR; NGS, next-generation sequencing; SS, Sanger sequencing.
a
The full names of the abbreviated populations are listed in the Material and Methods.
b
Experimental methods for detecting or validating the CNV.