A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568076



Internal ID18349588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73534407..73551355hg38UCSC Ensembl
Innerchr14:74001111..74018059hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3816949
hg1916949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv657e212
Supporting Variantsessv9806481, essv9806483, essv9806486, essv9806479, essv9806482, essv9806478, essv9806484, essv9806487, essv9806485, essv9806480, essv9806490, essv9806489
Samples400927BD, 400145BL, 400739SS, 400626FC, 401074CM, 401019MP, 400688FL, 401997HB, 401785MJ, 400870KC, 401152MV, 400661AD
Known GenesACOT1, HEATR4
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)esv3568076
Frequency
Sample Size873
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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