Variant DetailsVariant: esv18626 | Internal ID | 11382545 | | Landmark | | | Location Information | | | Cytoband | 1q32.1 | | Allele length | | Assembly | Allele length | | hg38 | 115465 | | hg19 | 115465 | | hg18 | 115465 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv24486 | | Supporting Variants | essv51708, essv34851, essv67610, essv80462, essv63945, essv59446, essv56221, essv73607, essv83571, essv77008, essv39792, essv35632, essv48633, essv75203, essv54771, essv43860, essv51521, essv66975, essv60575, essv79069, essv72191, essv57281, essv61526, essv42258, essv81417, essv44107, essv50060, essv65664, essv45508, essv70979, essv76090, essv40615, essv47644, essv32185, essv37489, essv63512, essv38585, essv52846, essv77952 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, 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 | PPP1R12B | | 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) | esv18626
| | Frequency | | Sample Size | 40 | | Observed Gain | 0 | | Observed Loss | 39 | | Observed Complex | 0 | | Frequency | n/a |
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