A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9768384



Internal ID18684683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:136302857..136312636hg38UCSC Ensembl
Innerchr3:136021699..136031478hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg389780
hg199780
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575607
Supporting Variants
Samples401735LE
Known GenesPCCB
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=11
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9768384
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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