Variant DetailsVariant: esv20791 | Internal ID | 11384710 | | Landmark | | | Location Information | | | Cytoband | 11q13.1 | | Allele length | | Assembly | Allele length | | hg38 | 6944 | | hg19 | 6944 | | hg18 | 6944 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv23728 | | Supporting Variants | essv54621, essv43822, essv37261, essv47738, essv77854, essv37962, essv62576, essv44337, essv60443, essv34043, essv41572, essv79991, essv39408, essv74797, essv75595, essv76655, essv46205, essv35885, essv72280, essv70249, essv40959, essv56987, essv48493, essv49977, essv79390, essv61181, essv51367, essv81136, essv73237, essv33528, essv51787, essv58578, essv53634, essv55898, essv65897, essv67053 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA18916, NA12287, NA12156, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | MALAT1 | | 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) | esv20791
| | Frequency | | Sample Size | 40 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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