Variant DetailsVariant: esv3580396 | Internal ID | 18361908 | | Landmark | | | Location Information | | | Cytoband | 12q23.1 | | Allele length | | Assembly | Allele length | | hg38 | 2962 | | hg19 | 2962 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv502e212 | | Supporting Variants | essv9802001, essv9802047, essv9802010, essv9802012, essv9802039, essv9802030, essv9802017, essv9801999, essv9802002, essv9802053, essv9802048, essv9802008, essv9802042, essv9802035, essv9801994, essv9802036, essv9802025, essv9802004, essv9802015, essv9802034, essv9801988, essv9801987, essv9802037, essv9802028, essv9801990, essv9802049, essv9802013, essv9802024, essv9802020, essv9801995, essv9802051, essv9801993, essv9802050, essv9802003, essv9802045, essv9802040, essv9802009, essv9802021, essv9802016, essv9801991, essv9802006, essv9802019, essv9801997, essv9802041, essv9802052, essv9802018, essv9802029, essv9802023, essv9802007, essv9801986, essv9802005, essv9802046, essv9802038, essv9802031, essv9802026, essv9802027, essv9802032, essv9802014, essv9801998, essv9801992, essv9801996, essv9802043 | | Samples | 400432VA, 401285HN, 401673DM, 401966SR, 401403TD, 400068PW, 401183HP, 400629BM, 401820SD, 400641WJ, 401674DD, 400558BL, 400245SJ, 402016HZ, 400674CA, 401924ST, 401695BT, 402064DC, 401113MJ, 402038MR, 400460DM, 400320RN, 400033KC, 401303FM, 401495NR, 401133JG, 401013GJ, 400843FL, 401764JJ, 401331LJ, 400974PS, 400768MN, 401357MH, 400093BL, 400375KA, 401862AN, 400076LC, 401813DN, 401506LK, 400686BM, 400681MC, 401087SF, 400047DS, 400248JO, 400014SL, 401795SP, 401940SJ, 400520FM, 401616WP, 401496SL, 400471YS, 402009WP, 401847RK, 400295PS, 401288LD, 401314MK, 400996MC, 401817MC, 401607LL, 401480PG, 400234CA, 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) | esv3580396
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 62 | | Observed Complex | 0 | | Frequency | n/a |
|
|
