A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576240



Internal ID18704438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160611057..160613262hg38UCSC Ensembl
Innerchr6:161032089..161034294hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg382206
hg192206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9782436, essv9782437
Samples401474CE, 400043HC
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)esv3576240
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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