A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581161



Internal ID18362673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30802222..31094869hg38UCSC Ensembl
Innerchr12:30955156..31247803hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38292648
hg19292648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801106
Samples400650RM
Known GenesDDX11, DDX11-AS1, LINC00941, TSPAN11
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)esv3581161
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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