Table 1.
Chromosomal regions with differing copy number between CHEK2 1100delC-mutation carriers and others
| Chromosome | Start | End | Clones | Sum of clones | Length | Cytoband | P value |
|---|---|---|---|---|---|---|---|
| 1 | 63762320 | 75867880 | 109 | 410 | 46865220 | 1p13.3-31.3 | 0.0031 |
| 1 | 76025260 | 87854764 | 110 | 0.0004 | |||
| 1 | 87964559 | 98030482 | 81 | 0.0001 | |||
| 1 | 98201778 | 110627540 | 110 | 0.0004 | |||
| 8 | 3329536 | 5083904 | 26 | 46 | 4279506 | 8p21.1-2 | 0.0062 |
| 8 | 5292190 | 6859255 | 15 | 0.0027 | |||
| 8 | 7041464 | 7609042 | 5 | 0.0066 | |||
| 8 | 24208215 | 29092984 | 35 | 41 | 5366218 | 8p23.1-2 | 0.0035 |
| 8 | 29293167 | 29574433 | 6 | 0.0064 | |||
| 12 | 46370995 | 47105108 | 10 | 103 | 9563151 | 12q13.11-3 | 0.0018 |
| 12 | 47191262 | 49654440 | 21 | 0.0022 | |||
| 12 | 49858115 | 51459707 | 21 | 0.0065 | |||
| 12 | 51492453 | 52261807 | 9 | 0.0025 | |||
| 12 | 52382320 | 54215964 | 23 | 0.0009 | |||
| 12 | 54367089 | 55934146 | 19 | 0.0044 | |||
| 16 | 11139 | 3142783 | 23 | 23 | 3131644 | 16p13.3 | 0.0091 |
| 17 | 9578676 | 15297799 | 54 | 54 | 5719123 | 17p12-13.1 | 0.0025 |
| 19 | 2122188 | 4798764 | 17 | 17 | 2676576 | 19p13.3 | 0.0045 |
Areas on chromosomes 1, 8, and 12 consist of multiple non-overlapping regions with differing copy numbers, whereas areas on chromosomes 16, 17, and 19 consist of single regions. Each row represents one region with constant calls across all samples. Sum of clones and length columns give the number of clones on all regions of each area and the total length of the area, respectively.