A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581416



Internal ID18709614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31849466..31910706hg38UCSC Ensembl
Innerchr12:32002400..32063640hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3861241
hg1961241
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv475e212
Supporting Variantsessv9801209
Samples401698SB
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)esv3581416
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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