A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573764



Internal ID18355276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59142030..59424243hg38UCSC Ensembl
Innerchr17:57219391..57501604hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38282214
hg19282214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9815050
Samples400627CC
Known GenesGDPD1, MIR301A, MIR4729, PRR11, SKA2, SMG8, YPEL2
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)esv3573764
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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