A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12591



Internal ID9609882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68319798..68592915hg38UCSC Ensembl
Innerchr18:65987035..66260152hg19UCSC Ensembl
Innerchr18:64138015..64411132hg18UCSC Ensembl
Innerchr18:64138015..64411132hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38273118
hg19273118
hg18273118
hg17273118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758479, esv2758480
Supporting Variants
SamplesNA19098
Known Genes
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv12591
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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