Variant DetailsVariant: esv3581206 | Internal ID | 18709404 | | Landmark | | | Location Information | | | Cytoband | 14q22.1 | | Allele length | | Assembly | Allele length | | hg38 | 2199 | | hg19 | 2199 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9805809, essv9805799, essv9805784, essv9805838, essv9805827, essv9805806, essv9805798, essv9805807, essv9805793, essv9805817, essv9805832, essv9805795, essv9805788, essv9805828, essv9805797, essv9805836, essv9805790, essv9805830, essv9805824, essv9805834, essv9805801, essv9805818, essv9805785, essv9805846, essv9805841, essv9805829, essv9805839, essv9805815, essv9805816, essv9805812, essv9805794, essv9805808, essv9805842, essv9805787, essv9805813, essv9805791, essv9805792, essv9805840, essv9805802, essv9805803, essv9805786, essv9805804, essv9805805, essv9805821, essv9805835, essv9805823, essv9805820, essv9805825, essv9805810, essv9805814, essv9805796, essv9805826, essv9805837, essv9805843, essv9805831, essv9805845, essv9805819 | | Samples | 401706BJ, 400424LN, 401465TB, 401212HJ, 400802DP, 401400NP, 40031BA, 401074CM, 400221VM, 400506GN, 400643LD, 400191MP, 400425SL, 400298ME, 400482MD, 401908YM, 400134WK, 400871CM, 401965TG, 402061PI, 400478WE, 401620BA, 400041LJ, 400302HW, 401900RJ, 401863BD, 400207HN, 401950MD, 401230NL, 401125LM, 400285FA, 401694SG, 401879HJ, 401930GD, 4000657TM, 400844GP, 400050RL, 402022SM, 400886MP, 400854SG, 400362TV, 402074RR, 400354TJ, 401778CB, 401112LG, 400444MM, 400770MA, 400471YS, 400376SJ, 401277RA, 401611CD, 401552BK, 400235MP, 400410CD, 401571SD, 400209BS, 400782IE | | Known Genes | GNG2 | | 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) | esv3581206
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 57 | | Observed Complex | 0 | | Frequency | n/a |
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