A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576302



Internal ID18704500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:33091062..33149866hg38UCSC Ensembl
Innerchr7:33130674..33189478hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3858805
hg1958805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1880e212
Supporting Variantsessv9783265, essv9783263, essv9783264
Samples401079HJ, 401764JJ, 402001SR
Known GenesBBS9, RP9
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)esv3576302
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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