A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581349



Internal ID18709547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31846713..31910706hg38UCSC Ensembl
Innerchr12:31999647..32063640hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3863994
hg1963994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv475e212
Supporting Variantsessv9801206, essv9801204, essv9801202, essv9801205, essv9801207, essv9801203, essv9801199
Samples401820SD, 402028BD, 400343BD, 400032RC, 400053LE, 401056TJ, 401490TL
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)esv3581349
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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