Table 1 CNV data from DECIPHER and control CNVs taken from the WTCCC2 study
From: Deletions of chromosomal regulatory boundaries are associated with congenital disease
Data | n | Length (Mb) | HPO terms | TDBs | Genes |
|---|---|---|---|---|---|
DECIPHER | |||||
CNV cases | 7,535 | 3.61 (±7.54) | 3.3 (±4.9) | 3.3 (±7.6) | 29.2 (±53.6) |
Deletions | 4,055 | 3.68 (±5.74) | 3.6 (±4.2) | 3.4 (±5.6) | 27.7 (±37.6) |
Deletions with phenotype data | 2,300 | 3.7 (±5.0) | 5.6 (±4.7) | 3.5 (±5.2) | 27.3 (±32.7) |
Deletions with unique target phenotype | 922 | 4.6 (±5.3) | 7.5 (±5.1) | 4.3 (±5.7) | 33.3 (±35.0) |
WTCCC2 Controls | |||||
Probands | 5,919 | 0.428 (±0.29) | 0.0 (±0.0) | 0.099 (±0.37) | 2.9 (±4.2) |
Deletions | 1,958 | 0.414 (±0.27) | 0.0 (±0.0) | 0.071 (±0.29) | 2.3 (±2.9) |