Variant DetailsVariant: esv9995 | Internal ID | 11394120 | | Landmark | | | Location Information | | | Cytoband | 17q12 | | Allele length | | Assembly | Allele length | | hg38 | 81228 | | hg19 | 81317 | | hg18 | 82282 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv28567 | | Supporting Variants | essv61913, essv36571, essv65281, essv40398, essv55663, essv72562, essv42438, essv51655, essv83630, essv33731 | | Samples | NA18502, NA11931, NA19190, NA12878, NA11894, NA12239, NA19099, NA19225, NA19240, NA18505 | | Known Genes | LOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H | | 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) | esv9995
| | Frequency | | Sample Size | 40 | | Observed Gain | 9 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
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