A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569049



Internal ID18350561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:148707169..148710436hg38UCSC Ensembl
Innerchr3:148424956..148428223hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg383268
hg193268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417e212
Supporting Variantsessv9768520, essv9768523, essv9768521
Samples401074CM, 400582WS, 400811SK
Known GenesAGTR1
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)esv3569049
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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