A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575764



Internal ID18357276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99092644..99102819hg38UCSC Ensembl
Innerchr4:100013795..100023970hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3810176
hg1910176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9772273, essv9772271, essv9772272, essv9772270
Samples400131CM, 400793BR, 401943KA, 401365DJ
Known GenesLOC100507053
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)esv3575764
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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