A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583170



Internal ID18364682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77267738..77271972hg38UCSC Ensembl
Innerchr18:74979694..74983928hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg384235
hg194235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1006e212
Supporting Variantsessv9816256, essv9816259, essv9816249, essv9816257, essv9816252, essv9816250, essv9816260, essv9816258, essv9816253, essv9816251, essv9816254
Samples401906DT, 400871CM, 401950MD, 401443JK, 401369GR, 40050SB, 401359HF, 400837HN, 400471YS, 400769SL, 401040KM
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)esv3583170
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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