A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9836055



Internal ID18673389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49011673..49272610hg38UCSC Ensembl
Innerchr1:49477345..49738282hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38260938
hg19260938
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577841
Supporting Variants
Samples401390DG
Known GenesAGBL4
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=196
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9836055
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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