A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9795239



Internal ID18279393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:128673756..129928631hg38UCSC Ensembl
Innerchr10:130472020..131726895hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg381254876
hg191254876
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577850
Supporting Variants
Samples400040CN
Known GenesEBF3, MGMT, MIR4297
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=1312
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9795239
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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