A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9782447



Internal ID18632052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160611702..160646997hg38UCSC Ensembl
Innerchr6:161032734..161068029hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3835296
hg1935296
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576241
Supporting Variants
Samples400191MP
Known GenesLPA
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=10
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9782447
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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