A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580940



Internal ID18362452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22058619..22497506hg38UCSC Ensembl
Innerchr14:22526881..22966491hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38438888
hg19439611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv595e212
Supporting Variantsessv9804719, essv9804720
Samples401146US, 400077EB
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)esv3580940
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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