Variant DetailsVariant: esv16569Internal ID | 11033803 | Landmark | | Location Information | | Cytoband | 5p15.33 | Allele length | Assembly | Allele length | hg38 | 3391 | hg19 | 3391 | hg18 | 3391 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv27870 | Supporting Variants | essv80854, essv76930, essv62216, essv55583, essv59995, essv37989, essv46841, essv34654, essv35675, essv79547, essv33054, essv42498, essv65074, essv62586, essv53419, essv39310, essv59245, essv49156, essv45222, essv43117, essv73121, essv52282, essv44547, essv82817, essv74148, essv75842, essv64694 | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA19190, NA12287, NA12156, NA12489, NA18907, NA07045, NA12239, NA15510, NA19099, NA19257, NA19225, NA18523, NA18909, NA19108, NA19147, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511 | Known Genes | SLC12A7 | 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) | esv16569
| Frequency | Sample Size | 40 | Observed Gain | 26 | Observed Loss | 1 | Observed Complex | 0 | Frequency | n/a |
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