A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576241



Internal ID18704439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160611702..160646997hg38UCSC Ensembl
Innerchr6:161032734..161068029hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3835296
hg1935296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9782448, essv9782447
Samples400191MP, 400705KK
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3576241
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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