A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9775452



Internal ID18684326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80998386..81003056hg38UCSC Ensembl
Innerchr5:80294205..80298875hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384671
hg194671
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575863
Supporting Variants
Samples401730MS
Known GenesRASGRF2
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9775452
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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