Table 2.
Structural variations identified by whole-genome sequencing
ChrA | GRCh37 PosA | Orient A | Num Reads A | ChrB | GRCh37 PosB | Orient B | Num Reads B | Type | Genea |
---|---|---|---|---|---|---|---|---|---|
12 | 512012 | + | 2 | 12 | 28683009 | + | 3 | DEL | CCDC77_CCDC91 |
12 | 31929644 | − | 1 | 12 | 31221648 | + | 2 | ITX | DDX11-AS1 |
12 | 31835817 | + | 3 | 12 | 30028522 | − | 0 | ITX | AMN1 |
21 | 15950538 | + | 4 | 21 | 48047093 | + | 2 | DEL | SAMSN1 |
21 | 36981223 | + | 4 | 21 | 48033053 | + | 2 | DEL | |
21 | 48048095 | − | 6 | 21 | 36989776 | + | 3 | ITX | |
21 | 37092441 | + | 1 | 5 | 2243357 | + | 6 | CTX | |
9 | 92290776 | + | 3 | 9 | 92290847 | + | 0 | DEL | |
12 | 120004464 | + | 3 | 12 | 120025731 | + | 0 | DEL | |
12 | 32142064 | + | 4 | 12 | 31797004 | + | 2 | INS | KIAA1551 |
21 | 20846107 | + | 16 | 21 | 48047298 | − | 0 | ITX | |
2 | 133400741 | + | 2 | 2 | 133400857 | + | 6 | DEL |
DEL, deletion; INS, insertion; ITX, intrachromosomal translocation; CTX, interchromosomal translocation.
aIncludes genes overlapping with the breakpoints according to Ref-seq.