Variant DetailsVariant: esv14103 | Internal ID | 11378022 | | Landmark | | | Location Information | | | Cytoband | 11p15.4 | | Allele length | | Assembly | Allele length | | hg38 | 24427 | | hg19 | 24427 | | hg18 | 24427 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv28265 | | Supporting Variants | essv39562, essv77802, essv35093, essv41245, essv38665, essv44708, essv34618, essv71832, essv32285, essv61029, essv69162, essv37540, essv45319, essv47460, essv67960, essv59457, essv48441, essv59623, essv83207, essv40776, essv51510, essv52212, essv56675, essv76055, essv82221, essv73745, essv64805, essv77194, essv78865, essv54011, essv66434, essv71280, essv65665, essv74512, essv42902, essv57464, essv55641, essv49959 | | Samples | NA18502, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | OR52N1, OR52N5 | | 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) | esv14103
| | Frequency | | Sample Size | 40 | | Observed Gain | 38 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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