A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583166



Internal ID18364678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77243774..77255913hg38UCSC Ensembl
Innerchr18:74955730..74967869hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3812140
hg1912140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1005e212
Supporting Variantsessv9816239, essv9816237, essv9816240, essv9816241, essv9816238, essv9816236
Samples400287BP, 401792KR, 400533BB, 400518MS, 401268PS, 400069CN
Known GenesGALR1
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)esv3583166
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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