A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9803543



Internal ID18693955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63727459..64798152hg38UCSC Ensembl
Innerchr13:64301592..65372284hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg381070694
hg191070693
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582472
Supporting Variants
Samples401994BD
Known GenesLINC00395, OR7E156P
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
CommentsNumber of probes=791
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9803543
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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