A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9804780



Internal ID18321851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22144335..22490374hg38UCSC Ensembl
Innerchr14:22612288..22959362hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38346040
hg19347075
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580968
Supporting Variants
Samples401253MC
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
CommentsNumber of probes=560
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9804780
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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