A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580085



Internal ID18361597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5977099..5986108hg38UCSC Ensembl
Innerchr12:6086265..6095274hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389010
hg199010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv446e212
Supporting Variantsessv9800032, essv9800036, essv9800035, essv9800031, essv9800033, essv9800037
Samples401385BB, 401842BJ, 400343BD, 400609FJ, 400705KK, 401215MJ
Known GenesVWF
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)esv3580085
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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