A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9790720



Internal ID18348960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:33283584..33531049hg38UCSC Ensembl
Innerchr9:33283582..33531047hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38247466
hg19247466
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576648
Supporting Variants
Samples402063WM
Known GenesANKRD18B, AQP3, AQP7, MIR6851, NFX1, NOL6, SUGT1P1
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=220
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9790720
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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