A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9800645



Internal ID18642874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193186369..193188759hg38UCSC Ensembl
Innerchr1:193155499..193157889hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382391
hg192391
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575383
Supporting Variants
Samples400493KH
Known GenesB3GALT2, CDC73
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9800645
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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