Variant DetailsVariant: dgv502e212 Internal ID | 20148958 | Landmark | | Location Information | | Cytoband | 12q23.1 | Allele length | Assembly | Allele length | hg38 | 3267 | hg19 | 3267 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3580398, esv3580401, esv3580396, esv3580404, esv3580397, esv3580393 | Samples | 401196CR, 401146US, 400432VA, 401285HN, 400132HN, 400594VJ, 401673DM, 401966SR, 401403TD, 400068PW, 401183HP, 401491BB, 400629BM, 401820SD, 400897MD, 400641WJ, 401674DD, 401355CD, 400558BL, 400245SJ, 402016HZ, 400674CA, 401924ST, 400482MD, 401695BT, 402064DC, 401113MJ, 402038MR, 400022WA, 400460DM, 400320RN, 400033KC, 400427SD, 401303FM, 401495NR, 401133JG, 401013GJ, 400843FL, 401764JJ, 400413FJ, 400282RA, 401725MR, 401331LJ, 400416KA, 400974PS, 401084TD, 401540NA, 400768MN, 401357MH, 400093BL, 400375KA, 401862AN, 401348RB, 400994HJ, 400076LC, 401730MS, 401813DN, 401630MK, 401506LK, 400686BM, 400681MC, 402001SR, 401087SF, 400047DS, 400248JO, 400014SL, 401795SP, 401940SJ, 400520FM, 401616WP, 401496SL, 400471YS, 402009WP, 401847RK, 401277RA, 400295PS, 401288LD, 401314MK, 400996MC, 401817MC, 401607LL, 401554VN, 400213DB, 401153HS, 401453OL, 400300SD, 401576WC, 401480PG, 400238BB, 400234CA, 400782IE, 400704LC | Known Genes | ANKS1B | Method | SNP array | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | Platform | Affymetrix CytoScan HD 2.7M array | Comments | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | dgv502e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 92 | Observed Complex | 0 | Frequency | n/a |
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