A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578361



Internal ID18706559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18919650..18949820hg38UCSC Ensembl
Innerchr11:18941197..18971367hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3830171
hg1930171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9796560, essv9796559
Samples400926LJ, 401432SB
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)esv3578361
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer