Table 5.
Variants found by Phased Sequencing of 521 bp CT-rich Region
| Variant Name |
Position in 521 bp Region |
Position on Chr4 (HG19) |
Variant Type |
Reference Allele | Variant Allele | Number of Variants Found |
Variant Allele Frequency |
|---|---|---|---|---|---|---|---|
| rs2298728 | 6 | 90,742,815 | SNP | C | T | 15 | 0.08 |
| rs112597569 | 106 | 90,742,715 | Deletion | TAC | - | 59 | 0.31 |
| rs35897584 | 129 | 90,742,692 | SNP | T | C | 15 | 0.08 |
| rs17016251 | 182 | 90,742,639 | SNP | C | G | 62 | 0.33 |
| rs79624097 | 332 | 90,742,489 | SNP | C | T | 74 | 0.39 |
| rs142125351 | 346 | 90,742,476 | Insertion | - | ACTTTCTTTCCTTTCTTTCTTT | 136 | 0.72 |
| rs145649402 | 359 | 90,742,462 | Deletion | TCCTTTCTCCCTTC CTTCCTTCCT |
- | 62 | 0.33 |
| rs386677149 | 364 | 90,742,457 | MNP | TC | CT | 59 | 0.31 |
| Novel | 382 | 90,742,439 | Insertion | - | CCCTTTCTTTCTTTCTCTTTTTTCTTTCTT GCTTCCTTCCTTCCTTCTTTCCTTTTCTTT CTTTTCCCTTCCTTCCT |
59 | 0.31 |
N=95 samples, 188 fully sequenced haplotypes