A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576584



Internal ID18704782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68813436..68907673hg38UCSC Ensembl
Innerchr8:69725671..69819908hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3894238
hg1994238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9788808
Samples400881GS
Known GenesC8orf34
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)esv3576584
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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