Variant DetailsVariant: esv11547 | Internal ID | 11375466 | | Landmark | | | Location Information | | | Cytoband | 1p13.3 | | Allele length | | Assembly | Allele length | | hg38 | 86241 | | hg19 | 86241 | | hg18 | 86241 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv23343 | | Supporting Variants | essv39217, essv41479, essv80466, essv44418, essv43260, essv83031, essv65582, essv81770, essv40477, essv50505, essv60148, essv54301, essv35726, essv77228, essv52778, essv62560, essv58651, essv67374, essv46725, essv78846, essv75075, essv68575, essv45313, essv61437, essv37253, essv57232, essv75891, essv37687, essv77629, essv69193, essv48192, essv33226, essv34444 | | Samples | NA18502, NA11995, NA18861, NA18508, NA12414, NA12004, NA19190, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA18511 | | Known Genes | NBPF6 | | 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) | esv11547
| | Frequency | | Sample Size | 40 | | Observed Gain | 32 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
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