Variant DetailsVariant: esv17666 | Internal ID | 11381585 | | Landmark | | | Location Information | | | Cytoband | 6q27 | | Allele length | | Assembly | Allele length | | hg38 | 1046 | | hg19 | 1046 | | hg18 | 1046 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv28253 | | Supporting Variants | essv54387, essv56337, essv69065, essv32262, essv40760, essv57345, essv75521, essv67812, essv74489, essv51677, essv79525, essv58945, essv43032, essv42094, essv46958, essv77045, essv60916, essv38732, essv37018, essv67136, essv63250, essv45914, essv48311, essv73655, essv80414, essv52956, essv78557, essv82529, essv64045, essv65409, essv72050, essv34592 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA12004, NA12156, NA12044, NA12828, NA11993, NA12878, NA07045, NA19114, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | FAM120B | | 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) | esv17666
| | Frequency | | Sample Size | 40 | | Observed Gain | 0 | | Observed Loss | 32 | | Observed Complex | 0 | | Frequency | n/a |
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