A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9809361



Internal ID18310569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:90629354..90640184hg38UCSC Ensembl
Innerchr15:91172586..91183416hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3810831
hg1910831
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569875
Supporting Variants
Samples400906BR
Known GenesCRTC3
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=13
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9809361
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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