A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9802516



Internal ID18278403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117356518..118228514hg38UCSC Ensembl
Innerchr12:117794323..118666319hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38871997
hg19871997
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3581916
Supporting Variants
Samples4000046CJ
Known GenesKSR2, NOS1, PEBP1, RFC5, TAOK3, VSIG10, WSB2
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=1026
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9802516
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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