A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575720



Internal ID18703918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68570171..68674702hg38UCSC Ensembl
Innerchr4:69435889..69540420hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38104532
hg19104532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1495e212
Supporting Variantsessv9771451, essv9771449, essv9771442, essv9771446, essv9771444, essv9771440, essv9771453, essv9771450, essv9771447, essv9771452, essv9771439, essv9771448, essv9771443, essv9771441
Samples400649PS, 401221LD, 401275SJ, 400643LD, 400600DP, 401495NR, 400929MM, 401027KW, 401185LE, 400869BK, 400598DA, 400136DM, 401215MJ, 401207DA
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)esv3575720
Frequency
Sample Size873
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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