A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569014



Internal ID18697212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:136300452..136312636hg38UCSC Ensembl
Innerchr3:136019294..136031478hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3812185
hg1912185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1411e212
Supporting Variantsessv9768377, essv9768379, essv9768374, essv9768375, essv9768376
Samples401235IA, 400793BR, 401346FJ, 401011PJ, 401858TP
Known GenesPCCB
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)esv3569014
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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