A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578305



Internal ID18706503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18919650..18940053hg38UCSC Ensembl
Innerchr11:18941197..18961600hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3820404
hg1920404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv328e212
Supporting Variantsessv9796448, essv9796440, essv9796442, essv9796437, essv9796446, essv9796457, essv9796441, essv9796443, essv9796438, essv9796449, essv9796459, essv9796450, essv9796460, essv9796456, essv9796452
Samples400075MR, 400574MA, 400629BM, 400131CM, 401780BB, 402065BG, 401965TG, 400416KA, 401864CV, 401176BD, 401413RG, 400859SC, 400586RD, 400261RN, 401180GR
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)esv3578305
Frequency
Sample Size873
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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