A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9812962



Internal ID18338741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:33632208..34617133hg38UCSC Ensembl
Innerchr17:31959227..32944152hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38984926
hg19984926
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3572553
Supporting Variants
Samples401766MR
Known GenesASIC2, C17orf102, CCL1, CCL11, CCL13, CCL2, CCL7, CCL8, TMEM132E
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
CommentsNumber of probes=1162
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9812962
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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