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. Author manuscript; available in PMC: 2009 Apr 29.
Published in final edited form as: Science. 2007 Sep 27;318(5849):420–426. doi: 10.1126/science.1149504

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