A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572999



Internal ID18701197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133012217..133022716hg38UCSC Ensembl
Innerchr8:134024462..134034961hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3810500
hg1910500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2116e212
Supporting Variantsessv9789913
Samples401054VM
Known GenesTG
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)esv3572999
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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