A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574142



Internal ID18702340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:64442003..64588458hg38UCSC Ensembl
Innerchr18:62109238..62255693hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38146456
hg19146456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv996e212
Supporting Variantsessv9816067
Samples401924ST
Known Genes
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)esv3574142
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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