A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9808771



Internal ID18306316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:59636874..59670724hg38UCSC Ensembl
Innerchr15:59929073..59962923hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3833851
hg1933851
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569653
Supporting Variants
Samples400778SR
Known GenesBNIP2, GTF2A2
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=50
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9808771
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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