A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583759



Internal ID18711957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42436818..42448019hg38UCSC Ensembl
Innerchr2:42663958..42675159hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811202
hg1911202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1118e212
Supporting Variantsessv9822345, essv9822423, essv9822367, essv9822389, essv9822356, essv9822378, essv9822411, essv9822400
Samples401769CR, 401403TD, 401006ES, 400583HS, 402074RR, 401287CF, 400323AA, 401735LE
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)esv3583759
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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