A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9801351



Internal ID18327401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47967703..47975389hg38UCSC Ensembl
Innerchr12:48361486..48369172hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg387687
hg197687
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580262
Supporting Variants
Samples401406KF
Known GenesCOL2A1, TMEM106C
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=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9801351
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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