A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583778



Internal ID18365290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46094122..46106882hg38UCSC Ensembl
Innerchr2:46321261..46334021hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3812761
hg1912761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9822767, essv9822778
Samples400269DA, 401881TJ
Known GenesPRKCE
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)esv3583778
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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