A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568667



Internal ID18696865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:28331663..28360829hg38UCSC Ensembl
Innerchr3:28373154..28402320hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3829167
hg1929167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1365e212
Supporting Variantsessv9837700, essv9837699, essv9837697, essv9837701, essv9837696
Samples401474CE, 401368WR, 401029SD, 400758KP, 401066MM
Known GenesAZI2
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)esv3568667
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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