A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569244



Internal ID18697442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:869846..874680hg38UCSC Ensembl
Innerchr4:863634..868468hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384835
hg194835
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9769492, essv9769488, essv9769483, essv9769482, essv9769484, essv9769486, essv9769493, essv9769491, essv9769487, essv9769485, essv9769481, essv9769490
Samples401474CE, 400359OR, 400424LN, 400889CM, 401838EN, 401104DM, 400843FL, 401259LS, 400837HN, 400712GC, 400106PC, 401354KM
Known GenesGAK
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)esv3569244
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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