A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574653



Internal ID18702851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51768056..52117340hg38UCSC Ensembl
Innerchr19:52271309..52620593hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38349285
hg19349285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1067e212
Supporting Variantsessv9817998
Samples401764JJ
Known GenesFPR2, FPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF841
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)esv3574653
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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