A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578460



Internal ID18706658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18919650..18940258hg38UCSC Ensembl
Innerchr11:18941197..18961805hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3820609
hg1920609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv328e212
Supporting Variantsessv9796467
Samples401695BT
Known GenesMRGPRX1
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3578460
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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