A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576140



Internal ID18357652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31385912..31488296hg38UCSC Ensembl
Innerchr6:31353689..31456073hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38102385
hg19102385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1751e212
Supporting Variantsessv9778902
Samples401845MJ
Known GenesHCG26, HCP5, MICA
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)esv3576140
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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