Variant DetailsVariant: esv22986 Internal ID | 11040219 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 165142 | hg19 | 165514 | hg18 | 165514 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv13265, esv15221, esv12427, esv16469, esv15075, esv14566, esv17014, esv17659, esv18396 | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776 | Known Genes | DEFB130, FAM66D, FAM86B1, FAM90A2P, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D | 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) | esv22986
| Frequency | Sample Size | 40 | Observed Gain | 37 | Observed Loss | 7 | Observed Complex | 0 | Frequency | n/a |
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