A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9801106



Internal ID18302404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30802222..31094869hg38UCSC Ensembl
Innerchr12:30955156..31247803hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38292648
hg19292648
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3581161
Supporting Variants
Samples400650RM
Known GenesDDX11, DDX11-AS1, LINC00941, TSPAN11
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=336
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9801106
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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