A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569512



Internal ID18697710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70254172..70263222hg38UCSC Ensembl
Innerchr4:71119889..71128939hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg389051
hg199051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1500e212
Supporting Variantsessv9771643, essv9771647, essv9771648, essv9771646
Samples401640WJ, 400272AE, 400677HD, 400106PC
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)esv3569512
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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