A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758474



Internal ID9633933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32803364..32994773hg38UCSC Ensembl
Innerchr18:30383327..30574737hg19UCSC Ensembl
Innerchr18:28637325..28828735hg18UCSC Ensembl
Innerchr18:28637325..28828735hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38191410
hg19191411
hg18191411
hg17191411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758720
Supporting Variantsessv12721
SamplesNA18914
Known GenesCCDC178
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)esv2758474
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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