A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578651



Internal ID18706849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14492341..14507289hg38UCSC Ensembl
Innerchr10:14534340..14549288hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3814949
hg1914949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv177e212
Supporting Variantsessv9792264, essv9792274, essv9792269, essv9792279, essv9792284, essv9792266, essv9792275, essv9792263, essv9792282, essv9792276, essv9792270, essv9792280, essv9792277, essv9792268, essv9792271, essv9792285, essv9792281, essv9792273, essv9792272, essv9792265, essv9792283, essv9792262
Samples400927BD, 400739SS, 401117NA, 400897MD, 400199SA, 400191MP, 400827MM, 401029SD, 400236DB, 401540NA, 400571WV, 400999HR, 40050SB, 400695PH, 401295HB, 400863SS, 400586RD, 400996MC, 401152MV, 400106PC, 400152MR, 400269DA
Known Genes
MethodSNP array
AnalysisWe 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.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3578651
Frequency
Sample Size873
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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