A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9804182



Internal ID18318872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93499479..93505747hg38UCSC Ensembl
Innerchr13:94151732..94158000hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg386269
hg196269
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582716
Supporting Variants
Samples401155ML
Known GenesGPC6
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)essv9804182
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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