A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582893



Internal ID18711091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22167533..22474583hg38UCSC Ensembl
Innerchr14:22635429..22943573hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38307051
hg19308145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv598e212
Supporting Variantsessv9804799, essv9804801
Samples400987FB, 400730SH
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)esv3582893
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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