Variant DetailsVariant: esv25631 | Internal ID | 11042864 | | Landmark | | | Location Information | | | Cytoband | 8p23.1 | | Allele length | | Assembly | Allele length | | hg38 | 594581 | | hg19 | 594581 | | hg18 | 594581 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv16077, esv14489, esv19986, esv12142, esv10959, esv15104, esv14804, esv17458, esv13743, esv20310, esv18040, esv15066, esv10880, esv14661, esv15045, esv12212, esv12547, esv18535, esv15330 | | 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, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12776 | | Known Genes | DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM86B3P, FAM90A10P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B | | 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) | esv25631
| | Frequency | | Sample Size | 40 | | Observed Gain | 37 | | Observed Loss | 13 | | Observed Complex | 0 | | Frequency | n/a |
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