A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9802549



Internal ID18337203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123580869..123587621hg38UCSC Ensembl
Innerchr12:124065416..124072168hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386753
hg196753
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580510
Supporting Variants
Samples401717LP
Known GenesTMED2
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9802549
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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