A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582689



Internal ID18710887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45509031..45579034hg38UCSC Ensembl
Innerchr17:43586397..43656400hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3870004
hg1970004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv927e212
Supporting Variantsessv9814010, essv9814009
Samples401808PS, 401504RJ
Known GenesLRRC37A4P
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)esv3582689
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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