A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583907



Internal ID18712105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:82801938..82816769hg38UCSC Ensembl
Innerchr2:83029062..83043893hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3814832
hg1914832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1140e212
Supporting Variantsessv9829089, essv9829188, essv9829144, essv9829177, essv9829077, essv9829066, essv9829133, essv9829122, essv9829200, essv9829166, essv9829100, essv9829211, essv9829111, essv9829155
Samples401021SC, 400987FB, 401385BB, 401321CE, 400558BL, 400203NA, 401165SB, 401596PJ, 400076LC, 401606CG, 401361GG, 401786WD, 400209BS, 400540BM
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)esv3583907
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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