Variant DetailsVariant: esv22204 | Internal ID | 11386123 | | Landmark | | | Location Information | | | Cytoband | 10q11.21 | | Allele length | | Assembly | Allele length | | hg19 | 950825 | | hg18 | 950825 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv20121, esv18141, esv18424, esv13897, esv16233, esv19313, esv14800, esv13211, esv12250, esv19573 | | Samples | NA18502, NA11995, NA18861, NA18508, NA11931, NA12004, NA19190, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129, NA12006, NA12776 | | Known Genes | AGAP9, ANXA8, BMS1P1, BMS1P2, BMS1P5, BMS1P6, FAM25C, FAM25G, FAM35BP, FAM35DP, FRMPD2P1, GLUD1P7, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, PTPN20A, PTPN20B, SYT15 | | 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) | esv22204
| | Frequency | | Sample Size | 40 | | Observed Gain | 7 | | Observed Loss | 32 | | Observed Complex | 0 | | Frequency | n/a |
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