Variant DetailsVariant: esv10619 | Internal ID | 11027853 | | Landmark | | | Location Information | | | Cytoband | 22q12.3 | | Allele length | | Assembly | Allele length | | hg38 | 3211 | | hg19 | 3211 | | hg18 | 3211 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv25278 | | Supporting Variants | essv33258, essv36958, essv74700, essv48458, essv62961, essv60994, essv58381, essv52511, essv64120, essv75512, essv68648, essv69347, essv43254, essv54699, essv41408, essv54151, essv56276, essv40495, essv72026, essv45533, essv50853, essv82504, essv80878, essv65764, essv34207, essv39151, essv44225, essv66738, essv60435, essv82795, essv78257, essv47417, essv49699, essv77433 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA12287, NA12044, NA12828, NA12489, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | LARGE | | 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) | esv10619
| | Frequency | | Sample Size | 40 | | Observed Gain | 34 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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