A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580109



Internal ID18708307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10426165..10435691hg38UCSC Ensembl
Innerchr12:10578764..10588290hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg389527
hg199527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv451e212
Supporting Variantsessv9800179, essv9800176, essv9800175, essv9800174, essv9800180, essv9800177
Samples401235IA, 401603HH, 401113MJ, 400733SW, 401943KA, 401444LD
Known GenesKLRC2
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)esv3580109
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