A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582952



Internal ID18364464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5456726..5459663hg38UCSC Ensembl
Innerchr18:5456725..5459662hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382938
hg192938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv969e212
Supporting Variantsessv9815430, essv9815431
Samples401936BA, 401773AM
Known GenesEPB41L3
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3582952
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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