A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570444



Internal ID18351956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139514240..139534770hg38UCSC Ensembl
Innerchr5:138893825..138914355hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3820531
hg1920531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1649e212
Supporting Variantsessv9776234, essv9776232
Samples400076LC, 401087SF
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)esv3570444
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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