A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580271



Internal ID18361783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50014434..50036123hg38UCSC Ensembl
Innerchr12:50408217..50429906hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3821690
hg1921690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801373, essv9801376, essv9801375, essv9801371, essv9801374, essv9801372
Samples400534ME, 401783BD, 400977SC, 400768MN, 401025SM, 401287CF
Known GenesRACGAP1
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)esv3580271
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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