A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572498



Internal ID18700696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21408268..21607725hg38UCSC Ensembl
Innerchr17:21311580..21510992hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38199458
hg19199413
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv897e212
Supporting Variantsessv9812810
Samples400123WN
Known GenesC17orf51, KCNJ12, KCNJ18
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)esv3572498
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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