Table 1 Summary of i2QTL variants called from samples in the HipSci and iPSCORE collections.
Variant class | No. of variants | No. of common variants |
---|---|---|
SNV | 41,826,418 | 7,013,178 |
INDEL | 7,040,457 | 1,862,365 |
Deletion (DEL) | 16,238 | 3,490 |
Duplication (DUP) | 2693 | 416 |
Multiallelic CNV (mCNV) | 1703 | 949 |
Other SV (BND) | 4612 | 1,377 |
Inversion (INV) | 210 | 92 |
Reference mobile element insertions (rMEI) | 2343 | 1689 |
ALU | 7880 | 2385 |
LINE1 | 1175 | 262 |
SVA | 442 | 115 |
Short tandem repeats (STR) | 588,189 | 381,053 |
Total SV | 37,296 | 10,775 |
Total SV/STR | 625,485 | 391,828 |
Total | 49,492,360 | 9,267,371 |