A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9813824



Internal ID18666567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41372895..41391063hg38UCSC Ensembl
Innerchr17:39529147..39547315hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3818169
hg1918169
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573208
Supporting Variants
Samples401190WC
Known GenesKRT34
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=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9813824
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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