Variant DetailsVariant: esv22842 Internal ID | 11040075 | Landmark | | Location Information | | Cytoband | 11q11 | Allele length | Assembly | Allele length | hg38 | 238914 | hg19 | 238914 | hg18 | 238914 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv13959, esv16258, esv12024, esv21129, esv17778 | Samples | NA18502, NA18861, NA12414, NA18916, NA12828, NA12878, NA18907, NA11894, NA12239, NA15510, NA19257, NA19225, NA06985, NA19129, NA12006, NA18511, NA12776 | Known Genes | OR4C11, OR4C6, OR4P4, OR4S2, OR5D13, OR5D14, OR5D18, OR5L1, OR5L2 | 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) | esv22842
| Frequency | Sample Size | 40 | Observed Gain | 1 | Observed Loss | 17 | Observed Complex | 0 | Frequency | n/a |
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