Table 3 Genomic imbalance detected by 500K AGH in 54 idiopathic ID trios from the 100K cohort.
| Â | Affymetrix 100K AGH | Affymetrix 500K AGH | ||||||
|---|---|---|---|---|---|---|---|---|
Family | Change | Location | Start → End | Size (bp) | Change | Location | Start → End | Size (bp) |
1895 | Deletion | 13q12.11-q12.13 | 18,867,056 → 24,517,730 | 5,650,674 | Deletion | 13q12.11-q12.12 | 18,876,037 → 24,330,232 | 5,454,195 |
3476 | Deletion | 4q21.21-q22.1 | 82,008,594 → 93,076,278 | 11,067,684 | Deletion | 4q21.21-q22.1 | 82,429,950 → 91,434,337 | 9,004,387 |
3890 | Normal | Duplication | 8q23.2-q23.3 | 111,442,951 → 113,003,770 | 1,560,819 | |||
4794 | Duplication | 16p13.3 | 925,718 → 3,864,938 | 2,939,220 | Duplication | 16p13.3 | 2,681,813 → 3,927,524 | 1,245,711 |
4818 | Deletion | 12q14.2-q15 | 63,342,649 → 66,780,095 | 3,437,446 | Deletion | 12q14.2-q15 | 63,362,084 → 66,737,699 | 3,375,615 |
4840 | Normal | Deletion | 4p16.3 | 1,346,924 → 2,846,261 | 1,499,337 | |||
5003 | Deletion | 2p16.3 | 50,799,281 → >51,120,644 | 321,363 | Deletion | 2p16.3 | 50,829,675 → 51,120,302 | 290,627 |
5566 | Deletion | 14q11.2 | 20,741,117 → 20,918,741 | 177,624 | Deletion | 14q11.2 | 20,787,740 → 20,988,716 | 200,976 |
5994 | Mosaic Trisomy 9 | Whole Chromosome | Mosaic Trisomy 9 | Whole Chromosome | Â | Â | ||
6545 | Deletion | 7p22.2-p22.1 | 3,498,135 → 7,134,218 | 3,636,083 | Deletion | 7p22.2-p22.1 | 3,657,805 → 6,165,597 | 2,507,792 |
7807 | Deletion | 22q12.1 | 26,144,210 → 27,557,971 | 1,413,761 | Deletion | 22q12.1 | 26,293,416 → 27,462,458 | 1,169,042 |
8326 | Deletion | 14q11.2 | 19,584,863 → 21,207,935 | 1,623,072 | Deletion | 14q11.2 | 19,592,409 → 21,256,822 | 1,664,413 |