Variant DetailsVariant: esv19038 Internal ID | 11036272 | Landmark | | Location Information | | Cytoband | 6p25.3 | Allele length | Assembly | Allele length | hg38 | 1365 | hg19 | 1365 | hg18 | 1365 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv26846 | Supporting Variants | essv56155, essv75077, essv55163, essv68112, essv73453, essv58822, essv71217, essv49238, essv43832, essv63169, essv75919, essv40367, essv78245, essv41200, essv52161, essv39020, essv60345, essv64556, essv65441, essv36417, essv33726, essv80132 | Samples | NA18502, NA11995, NA12414, NA12004, NA18916, NA12287, NA12156, NA12878, NA18907, NA07045, NA15510, NA19099, NA06985, NA18523, NA18858, NA18909, NA19108, NA19240, NA07037, NA18505, NA12006, NA12776 | Known Genes | EXOC2 | 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) | esv19038
| Frequency | Sample Size | 40 | Observed Gain | 0 | Observed Loss | 22 | Observed Complex | 0 | Frequency | n/a |
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