A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572692



Internal ID18700890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39464300..39498857hg38UCSC Ensembl
Innerchr8:39321819..39356376hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3834558
hg1934558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9788360
Samples401852SK
Known GenesADAM3A
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)esv3572692
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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