Variant DetailsVariant: esv10863 | Internal ID | 11028097 | | Landmark | | | Location Information | | | Cytoband | 21q22.3 | | Allele length | | Assembly | Allele length | | hg38 | 16023 | | hg19 | 16023 | | hg18 | 16023 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv23456 | | Supporting Variants | essv80708, essv37609, essv79170, essv54626, essv77114, essv66119, essv78100, essv38221, essv59889, essv63096, essv69644, essv82379, essv74528, essv42260, essv48509, essv57069, essv52642, essv32520, essv71728, essv82876, essv50198, essv43587, essv64370, essv52779, essv36321, essv46894, essv40720, essv46198, essv44430, essv34450, essv58620, essv70712, essv39712, essv76131, essv67126, essv51134, essv56210, essv61916 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | SIK1 | | 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) | esv10863
| | Frequency | | Sample Size | 40 | | Observed Gain | 0 | | Observed Loss | 38 | | Observed Complex | 0 | | Frequency | n/a |
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