A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580254



Internal ID18361766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45020191..45026347hg38UCSC Ensembl
Innerchr12:45413974..45420130hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386157
hg196157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801339, essv9801341, essv9801338, essv9801332, essv9801333, essv9801340, essv9801336, essv9801337, essv9801335
Samples401749DJ, 400424LN, 400618GC, 401117NA, 401030GI, 402016HZ, 400749VW, 401274PA, 401894PD
Known GenesDBX2
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)esv3580254
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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