A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575716



Internal ID18703914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68570171..68676245hg38UCSC Ensembl
Innerchr4:69435889..69541963hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38106075
hg19106075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1495e212
Supporting Variantsessv9771469, essv9771488, essv9771471, essv9771473, essv9771482, essv9771492, essv9771491, essv9771485, essv9771484, essv9771480, essv9771466, essv9771483, essv9771479, essv9771472, essv9771490, essv9771476, essv9771470, essv9771475, essv9771468, essv9771477
Samples400075MR, 400570RW, 401769CR, 401299ST, 401036WS, 401491BB, 400077EB, 401434VN, 401214BJ, 400749VW, 401853WR, 400854SG, 400362TV, 400571WV, 400450FG, 400135DR, 400474GF, 400103BN, 401809FU, 400209BS
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)esv3575716
Frequency
Sample Size873
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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