Variant DetailsVariant: dgv657e212 Internal ID | 20149113 | Landmark | | Location Information | | Cytoband | 14q24.3 | Allele length | Assembly | Allele length | hg38 | 22922 | hg19 | 22922 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3568076, esv3568309, esv3568065, esv3568132 | Samples | 400927BD, 401366WD, 400145BL, 401465TB, 400569WC, 400739SS, 401146US, 401077VC, 400101EH, 400626FC, 401074CM, 400506GN, 401931JL, 401856GC, 401918CA, 400077EB, 401603HH, 401468RL, 400277LM, 400797ST, 400643LD, 401022ML, 401019MP, 400743LS, 401263HS, 400600DP, 400688FL, 400073HT, 402012RR, 400368SD, 400871CM, 400374LB, 401532LJ, 400341GL, 401997HB, 401448BJ, 401785MJ, 401726LW, 400038CK, 400870KC, 400702PA, 400660GK, 400050RL, 401619BT, 401606CG, 401075MN, 401087SF, 400869BK, 400278PD, 401039PA, 401919MD, 400258BC, 400450FG, 401259LS, 401176BD, 401410BJ, 400274TL, 400483DP, 400246MG, 401881TJ, 401552BK, 400863SS, 400235MP, 400971MK, 400205SP, 401240ML, 401152MV, 400792RE, 400661AD, 401882CR, 401576WC, 400982BS | Known Genes | ACOT1, HEATR4 | 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) | dgv657e212
| Frequency | Sample Size | 873 | Observed Gain | 72 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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