Variant DetailsVariant: esv21583 Internal ID | 11038816 | Landmark | | Location Information | | Cytoband | 8p23.1 | Allele length | Assembly | Allele length | hg38 | 456181 | hg19 | 456181 | hg18 | 456181 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv12444, esv14330, esv19684, esv12561, esv14110, esv10327, esv21229, esv16616, esv13434, esv10286, esv11114, esv17497, esv17443, esv11673, esv15178 | Samples | NA12489, NA18861, NA07037, NA18523, NA19114, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240 | Known Genes | DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11B, USP17L1P, USP17L4, ZNF705G | 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) | esv21583
| Frequency | Sample Size | 40 | Observed Gain | 37 | Observed Loss | 12 | Observed Complex | 0 | Frequency | n/a |
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