Variant DetailsVariant: esv20771 | Internal ID | 11038005 | | Landmark | | | Location Information | | | Cytoband | 2p22.1 | | Allele length | | Assembly | Allele length | | hg38 | 16954 | | hg19 | 16954 | | hg18 | 16954 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv24300 | | Supporting Variants | essv63664, essv83015, essv55911, essv36693, essv76217, essv73186, essv74607, essv59235, essv34091, essv67268, essv45138, essv32828, essv45382, essv57269, essv39747, essv50428, essv60304, essv68552, essv76910, essv80691, essv63158, essv78565, essv53232, essv61308, essv55662, essv35259, essv79080, essv42675, essv52410, essv48954, essv65178, essv47141, essv41644, essv40101, essv71908, essv37645, essv71085, essv81430 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA18916, NA12287, NA12156, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | GALM, SRSF7 | | 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) | esv20771
| | Frequency | | Sample Size | 40 | | Observed Gain | 0 | | Observed Loss | 38 | | Observed Complex | 0 | | Frequency | n/a |
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