Variant DetailsVariant: esv18611 | Internal ID | 11382530 | | Landmark | | | Location Information | | | Cytoband | 15q12 | | Allele length | | Assembly | Allele length | | hg38 | 6538 | | hg19 | 6538 | | hg18 | 6538 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv24852 | | Supporting Variants | essv78797, essv38016, essv73936, essv39710, essv55342, essv43958, essv66157, essv67303, essv47450, essv53956, essv50416, essv62425, essv64483, essv59045, essv59969, essv61783, essv33564, essv75474, essv78575, essv35867, essv71146, essv68269, essv81519, essv74292, essv34175, essv48721, essv56642, essv45595, essv52286, essv71632, essv83517, essv51131, essv36523, essv69077, essv44623, essv80703, essv42028, essv57898, essv40886 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, 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, NA12006, NA12776 | | Known Genes | GABRG3 | | 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) | esv18611
| | Frequency | | Sample Size | 40 | | Observed Gain | 39 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
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