A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9808868



Internal ID18332168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:70937608..71144384hg38UCSC Ensembl
Innerchr15:71229947..71436723hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38206777
hg19206777
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569664
Supporting Variants
Samples401540NA
Known GenesCT62, LRRC49, THSD4
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=187
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9808868
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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