A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569131



Internal ID18697329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:176058347..176078341hg38UCSC Ensembl
Innerchr3:175776135..175796129hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3819995
hg1919995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9768994, essv9768993
Samples401636WR, 400599CP
Known Genes
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)esv3569131
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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