A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9800773



Internal ID18629654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18781795..18808113hg38UCSC Ensembl
Innerchr12:18934729..18961047hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3826319
hg1926319
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580166
Supporting Variants
Samples400122PL
Known Genes
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
CommentsNumber of probes=16
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9800773
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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