A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9800095



Internal ID18662896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851816..7982938hg38UCSC Ensembl
Innerchr12:8004412..8135534hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38131123
hg19131123
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580483
Supporting Variants
Samples401075MN
Known GenesSLC2A14, SLC2A3
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
CommentsNumber of probes=100
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9800095
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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