A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573275



Internal ID18354787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45510675..45587776hg38UCSC Ensembl
Innerchr17:43588041..43665142hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3877102
hg1977102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv928e212
Supporting Variantsessv9814013
Samples400802DP
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)esv3573275
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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