Variant DetailsVariant: esv21913![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg18/?name=chr17:77379288..78654713;width=800;overview=1) Internal ID | 11039146 | Landmark | | Location Information | | Cytoband | 17q25.3 | Allele length | Assembly | Allele length | hg38 | 1275426 | hg19 | 1274002 | hg18 | 1275426 |
| Variant Type | CNV gain+loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv14822, esv20411, esv14525, esv18867, esv18728, esv20774, esv12397, esv21353, esv18606, esv13201, esv18984, esv15303, esv13575, esv16225, esv15116, esv13390, esv13452, esv9782, esv12572, esv20732, esv14693 | Samples | NA18502, NA18861, NA18508, NA12414, NA19190, NA18916, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA12239, NA15510, NA19257, NA19225, NA06985, NA18523, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA12776 | Known Genes | ALYREF, ANAPC11, ARHGDIA, ASPSCR1, B3GNTL1, C17orf62, CCDC57, CD7, CSNK1D, DCXR, DUS1L, FAM195B, FASN, FN3K, FN3KRP, FOXK2, GPS1, HEXDC, LRRC45, MAFG, MAFG-AS1, METRNL, MIR6787, MYADML2, NARF, NOTUM, NPB, OGFOD3, P4HB, PCYT2, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, STRA13, TBCD, TEX19, UTS2R, WDR45B, ZNF750 | 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) | esv21913
| Frequency | Sample Size | 40 | Observed Gain | 15 | Observed Loss | 25 | Observed Complex | 0 | Frequency | n/a |
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