A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583761



Internal ID18711959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42436818..42448184hg38UCSC Ensembl
Innerchr2:42663958..42675324hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811367
hg1911367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1118e212
Supporting Variantsessv9822445, essv9822434, essv9822456
Samples401500OM, 401258PC, 401932GN
Known GenesKCNG3
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)esv3583761
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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