A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758478



Internal ID9980555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66338790..66523275hg38UCSC Ensembl
Innerchr18:64006027..64190512hg19UCSC Ensembl
Innerchr18:62157007..62341492hg18UCSC Ensembl
Innerchr18:62157007..62341492hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38184486
hg19184486
hg18184486
hg17184486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758734
Supporting Variantsessv2641, essv4361, essv2999, essv23584, essv19250, essv20961, essv20365, essv4782, essv21110, essv5384, essv23009
SamplesNA12801, NA18967, NA18563, NA12812, NA12815, NA10838, NA18981, NA18573, NA10830, NA12006, NA18620
Known GenesCDH19
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)esv2758478
Frequency
Sample Size270
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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