A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575702



Internal ID18703900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57187711..57234236hg38UCSC Ensembl
Innerchr4:58053877..58100402hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3846526
hg1946526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1484e212
Supporting Variantsessv9771046, essv9771054, essv9771047, essv9771052, essv9771051, essv9771049, essv9771050, essv9771053, essv9771048
Samples401734PG, 401966SR, 400141CC, 401513KC, 400361HC, 401307VR, 401259LS, 400471YS, 401056TJ
Known GenesIGFBP7-AS1
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)esv3575702
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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