A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9769452



Internal ID18294525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197929642..197959642hg38UCSC Ensembl
Innerchr3:197656513..197686513hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3830001
hg1930001
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575648
Supporting Variants
Samples400438DB
Known GenesIQCG, RPL35A
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
CommentsNumber of probes=40
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9769452
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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