A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569644



Internal ID18697842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:107130169..107155384hg38UCSC Ensembl
Innerchr4:108051326..108076541hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3825216
hg1925216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9772333, essv9772332, essv9772330, essv9772331, essv9772327, essv9772328, essv9772326, essv9772335, essv9772329
Samples401498HH, 401355CD, 401281BP, 401566DD, 400817MB, 401198TI, 401771OS, 401149VA, 401143LK
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)esv3569644
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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