Table 1. Breakpoint regions for 8 patients with recurrent 3q13.2q13.31 deletions.
Patient | Proximal Min | Proximal Max | Distal Min | Distal Max | Uncertainty (bp) |
---|---|---|---|---|---|
1 | 112,139,023 | 112,139,077 | 115,514,961 | 115,515,016 | 55 |
2 | 112,138,807 | 112,138,859 | 115,514,746 | 115,514,798 | 52 |
3 | 112,139,311 | 112,139,338a | 115,515,251 | 115,515,278a | 27 |
4 | 112,139,553 | 112,139,611 | 115,515,494 | 115,515,552 | 58 |
5 | 112,138,686 | 112,138,807 | 115,514,625 | 115,514,746 | 121 |
7 | 112,138,807 | 112,138,859 | 115,514,746 | 115,514,798 | 52 |
8 | 112,139,369 | 112,139,435 | 115,515,310 | 115,515,376 | 66 |
9 | 112,139,977 | 112,139,986a | 115,515,918 | 115,515,927a | 9 |
In these cases, the informative cis-morphisms are 1 bp deletions. All coordinates are provided in the GRCh37/hg19 assembly.