A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580046



Internal ID18361558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2150788hg38UCSC Ensembl
Innerchr12:2245850..2259954hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3814105
hg1914105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv439e212
Supporting Variantsessv9799648, essv9799650, essv9799651, essv9799654, essv9799653, essv9799649, essv9799652
Samples402028BD, 400198MD, 400983PV, 401652HL, 400444MM, 400069CN, 400863SS
Known GenesCACNA1C
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)esv3580046
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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