A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584144



Internal ID18365656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:162739457..162745312hg38UCSC Ensembl
Innerchr2:163595967..163601822hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg385856
hg195856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835634, essv9835635
Samples400846MC, 400361HC
Known GenesKCNH7
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)esv3584144
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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