A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580324



Internal ID18708522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73404322..73429309hg38UCSC Ensembl
Innerchr12:73798102..73823089hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3824988
hg1924988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv492e212
Supporting Variantsessv9801547, essv9801546
Samples400041LJ, 400302HW
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)esv3580324
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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