A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9809321



Internal ID18326039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:85268452..85597222hg38UCSC Ensembl
Innerchr15:85811683..86140453hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38328771
hg19328771
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569853
Supporting Variants
Samples401368WR
Known GenesAKAP13
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=332
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9809321
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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