Table 2 CNV Status of 100× and 70× samples for the validated CNVs
From: Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Validated CNVs | CNV Status of 100× and 70× Samples | |||||
|---|---|---|---|---|---|---|
Sample | Chromosome | Start position | End position | CNV type | 100× Samples | 70× Samples |
CNV_Sample_1 | 17 | 2,516,458 | 2,808,662 | Deletion | Cannot exceed threshold | Cannot exceed threshold |
CNV_Sample_2 | 15 | 23,572,075 | 28,567,878 | Deletion | Called | Cannot exceed threshold |
CNV_Sample_3 | 8 | 116,085 | 43,218,462 | Duplication | Not called | Not called |
CNV_Sample_4 | 22 | 21,562,426 | 22,937,526 | Deletion | 2/3 segments | 2/2 segments |
CNV_Sample_5 | 16 | 14,927,708 | 16,367,932 | Duplication | 2/3 segments | 1/2 segments |
CNV_Sample_6 | 22 | 18,893,887 | 21,414,817 | Deletion | 3/4 segments | 3/5 segments |
CNV_Sample_7 | 23 | 24,190,859 | 26,236,246 | Duplication | Cannot exceed threshold | Cannot exceed threshold |
CNV_Sample_8 | 19 | 11,105,503 | 11,141,569 | Deletion | Not called | Not called |
CNV_Sample_9 | 11 | pter | 926,088 | Duplication | Called | Cannot exceed threshold |
CNV_Sample_10 | 16 | 15,457,515 | 17,564,653 | Deletion | 2/2 segments | 2/3 segments |
CNV_Sample_11 | 17 | 1,082,960 | 1,490,254 | Duplication | Called | Called |
CNV_Sample_12 | 8 | 12,051,483 | 43,218,462 | Duplication | 2/5 segments | 6/19 segments |
CNV_Sample_12 | 8 | pter | 7,079,475 | Deletion | 1/2 segments | 1/2 segments |
CNV_Sample_13 | 6 | 160,638,463 | qter | Deletion | 4/7 segments | 3/9 segments |
CNV_Sample_14 | 22 | 50,297,485 | 50,757,432 | Deletion | Cannot exceed threshold | Cannot exceed threshold |