A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578327



Internal ID18706525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18919650..18939792hg38UCSC Ensembl
Innerchr11:18941197..18961339hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3820143
hg1920143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv328e212
Supporting Variantsessv9796429, essv9796427, essv9796434, essv9796431, essv9796430, essv9796428, essv9796432
Samples400908PJ, 400486LS, 400292LP, 401717LP, 400681MC, 401847RK, 401453OL
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)esv3578327
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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