A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584326



Internal ID18712524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43356998..43779200hg38UCSC Ensembl
Innerchr14:43826201..44248403hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38422203
hg19422203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv627e212
Supporting Variantsessv9805397, essv9805398
Samples400105BB, 400528LR
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)esv3584326
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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