A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583602



Internal ID18365114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57221845..57222947hg38UCSC Ensembl
Innerchr19:57733213..57734315hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381103
hg191103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1094e212
Supporting Variantsessv9818396, essv9818391, essv9818389, essv9818395, essv9818393, essv9818394, essv9818390, essv9818392
Samples401706BJ, 400364SS, 400970VE, 400995MS, 400482MD, 400121PL, 401494PD, 400371GA
Known GenesZNF264
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)esv3583602
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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