Skip to main content

Table 1 Complex rearrangement breakpoint junctions as delineated by whole-genome mate-pair sequencing (WG-MPS) and Sanger sequencing (SS)

From: Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Chromosomal break

Translocation junctions as predicted by WG-MPS (GRCh37/hg19)

Translocation breakpoint positions as defined by SS (GRCh37/hg19)

chr6 (1st break)

chr6:100899302-100900111 [TRANSLOC_BAL_18reads_chr10:129761169-129761668]

chr6:100899825-100899830

chr6 (2nd break)

chr6:102274568-102275034 [TRANSLOC_BAL_13reads_chr7:147888949-147890271]

chr6:102274901-102274908

chr7

chr7:147888949-147890271 [TRANSLOC_BAL_13reads_chr6:102274568-102275034]

chr7:147889469-147889474

chr10

chr10:129761169-129761668 [TRANSLOC_BAL_18reads_chr6:100899302-100900111]

chr10:129761568-129761576