A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758481



Internal ID9980558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71885591..72307662hg38UCSC Ensembl
Innerchr18:69552827..69974897hg19UCSC Ensembl
Innerchr18:67703807..68125877hg18UCSC Ensembl
Innerchr18:67703807..68125877hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38422072
hg19422071
hg18422071
hg17422071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758738
Supporting Variantsessv1391
SamplesNA19007
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)esv2758481
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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