Variant DetailsVariant: esv11404Internal ID | 11028638 | Landmark | | Location Information | | Cytoband | 1q32.2 | Allele length | Assembly | Allele length | hg38 | 58406 | hg19 | 58406 | hg18 | 58406 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | esv26263 | Supporting Variants | essv71620, essv77227, essv77774, essv44230, essv55115, essv39226, essv60906, essv50842, essv67537, essv51782, essv34549, essv48321, essv79546, essv61634, essv80993 | Samples | NA18502, NA11995, NA11931, NA12287, NA12489, NA12239, NA19099, NA19225, NA06985, NA18523, NA18858, NA07037, NA12749, NA12006, NA18511 | Known Genes | CR1 | 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) | esv11404
| Frequency | Sample Size | 40 | Observed Gain | 15 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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