A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576656



Internal ID18358168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69125278..69127797hg38UCSC Ensembl
Innerchr9:71740194..71742713hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg382520
hg192520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2153e212
Supporting Variantsessv9790897, essv9790896, essv9790895
Samples401274PA, 400712GC, 400243CK
Known GenesTJP2
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3576656
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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