A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575719



Internal ID18703917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68570171..68678617hg38UCSC Ensembl
Innerchr4:69435889..69544335hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38108447
hg19108447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1495e212
Supporting Variantsessv9771502, essv9771497, essv9771498, essv9771501, essv9771504
Samples400949AM, 400493KH, 401190WC, 401075MN, 400458LS
Known GenesUGT2B15
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)esv3575719
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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