Variant DetailsVariant: esv20313 | Internal ID | 11384232 | | Landmark | | | Location Information | | | Cytoband | Xq28 | | Allele length | | Assembly | Allele length | | hg38 | 7410 | | hg19 | 7410 | | hg18 | 7410 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv24821 | | Supporting Variants | essv68980, essv73507, essv79729, essv64126, essv41101, essv56522, essv54119, essv52289, essv44959, essv83284, essv41124, essv39660, essv61851, essv77937, essv81461, essv32893, essv69072, essv62395, essv76206, essv34742, essv71320, essv37069, essv67144, essv36331, essv60948, essv80918, essv48497, essv66041, essv54948, essv42534, essv49904 | | Samples | NA18502, NA11995, NA18508, NA12414, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA06985, NA18523, NA18858, NA18909, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA12006, NA12776 | | Known Genes | TMLHE | | 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) | esv20313
| | Frequency | | Sample Size | 40 | | Observed Gain | 15 | | Observed Loss | 16 | | Observed Complex | 0 | | Frequency | n/a |
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