Variant DetailsVariant: esv20332 Internal ID | 11037566 | Landmark | | Location Information | | Cytoband | 6p25.3 | Allele length | Assembly | Allele length | hg38 | 1924 | hg19 | 1924 | hg18 | 1924 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv27485 | Supporting Variants | essv53633, essv66192, essv79324, essv78558, essv43410, essv50905, essv71494, essv41051, essv58065, essv55917, essv73439, essv59813, essv44340, essv82159, essv32393, essv36498, essv75772, essv56870, essv62847, essv55275, essv34247, essv66790, essv49362, essv39021, essv52390, essv47906, essv74493 | Samples | NA12489, NA18861, NA18523, NA19114, NA11931, NA12828, NA18517, NA12776, NA19108, NA15510, NA12287, NA19147, NA12414, NA18508, NA12004, NA18916, NA12006, NA06985, NA18502, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA11993, NA19240 | Known Genes | EXOC2 | 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) | esv20332
| Frequency | Sample Size | 40 | Observed Gain | 0 | Observed Loss | 27 | Observed Complex | 0 | Frequency | n/a |
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