Variant DetailsVariant: esv16306 Internal ID | 11033540 | Landmark | | Location Information | | Cytoband | 6p21.32 | Allele length | Assembly | Allele length | hg38 | 65920 | hg19 | 65920 | hg18 | 65919 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv28110 | Supporting Variants | essv73729, essv41111, essv41388, essv82082, essv75037, essv66946, essv37508, essv60152 | Samples | NA12004, NA12156, NA12828, NA12878, NA19114, NA11894, NA18523, NA18505 | Known Genes | C4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB | 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) | esv16306
| Frequency | Sample Size | 40 | Observed Gain | 2 | Observed Loss | 6 | Observed Complex | 0 | Frequency | n/a |
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