A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575723



Internal ID18703921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68570171..68676176hg38UCSC Ensembl
Innerchr4:69435889..69541894hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38106006
hg19106006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1495e212
Supporting Variantsessv9771464, essv9771459, essv9771461, essv9771458, essv9771463, essv9771454, essv9771462
Samples401857VG, 401030GI, 401831TW, 401818PC, 400040CN, 401771OS, 401105WS
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)esv3575723
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer