A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758741



Internal ID9980886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78264385..78517832hg38UCSC Ensembl
Innerchr18:76024385..76277832hg19UCSC Ensembl
Innerchr18:74125373..74378820hg18UCSC Ensembl
Innerchr18:74125373..74378820hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38253448
hg19253448
hg18253448
hg17253448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758483
SamplesNA19161, NA12144, NA19160, NA19129
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)esv2758741
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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