Table 1.
Validation of SVs identified by PEM. Array-CGH experiments were scored for indels in NA15510 not shared with NA18505. An additional 88 SV breakpoint junctions were deduced from the Celera assembly (table S1). Totals are underlined. Genomewide estimates of SVs are 761 for NA15510 and 887 for NA18505.
Total SVs |
Intersection with SVs/CNVs in DGV |
SVs confirmed by Celera assembly |
Array-CGH | Fiber-Fish (no. of validated inversions indicated) |
PCR spanning breakpoint junctions |
SV events with sequenced breakpoint junctions |
|
---|---|---|---|---|---|---|---|
Female of presumably European ancestry (NA15510) | |||||||
SVs detected by PEM | 472 | 278 | 104 | 31 | 2 | 157 | 52 |
SV indels | 422 | 249 | 95 | 31 | 132 | 51 | |
Inversions | 50 | 29 | 9 | 2 | 25 | 1 | |
Female of African ancestry (NA18505) | |||||||
SVs detected by PEM | 825 | 495 | 103 | 2 | 354 | 61 | |
SV indels | 753 | 454 | 97 | 328 | 59 | ||
Inversions | 72 | 41 | 6 | 2 | 26 | 2 |