A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9789381



Internal ID18302832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:89459560..89771643hg38UCSC Ensembl
Innerchr8:90471789..90783871hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38312084
hg19312083
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576595
Supporting Variants
Samples400661AD
Known GenesRIPK2
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=192
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9789381
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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