Variant DetailsVariant: esv12578 | Internal ID | 11029812 | | Landmark | | | Location Information | | | Cytoband | 22q11.21 | | Allele length | | Assembly | Allele length | | hg38 | 144042 | | hg19 | 144042 | | hg18 | 144042 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv28075 | | Supporting Variants | essv36850, essv64730, essv42591, essv70727, essv82960, essv48556, essv75547, essv51785, essv41532, essv62397, essv40001, essv56014, essv65942, essv52885, essv37621, essv45714, essv61454, essv46988, essv44686, essv67356, essv54753, essv36310, essv77460, essv74609, essv49738, essv77662, essv72937, essv33826, essv73981, essv50869, essv33622, essv79283, essv57300, essv79869 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12156, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18909, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | HIC2, RIMBP3B, RIMBP3C | | Method | Oligo aCGH | | Analysis | Segment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls. | | Platform | Sanger H. Sapiens 42mCGH Array 5781_53 726K v1 | | Comments | | | Reference | Conrad_et_al_2009 | | Pubmed ID | 19812545 | | Accession Number(s) | esv12578
| | Frequency | | Sample Size | 40 | | Observed Gain | 1 | | Observed Loss | 33 | | Observed Complex | 0 | | Frequency | n/a |
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