A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758479



Internal ID9633938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68319798..68581540hg38UCSC Ensembl
Innerchr18:65987035..66248777hg19UCSC Ensembl
Innerchr18:64138015..64399757hg18UCSC Ensembl
Innerchr18:64138015..64399757hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38261743
hg19261743
hg18261743
hg17261743
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758736
Supporting Variantsessv3549, essv12591, essv17849, essv13918
SamplesNA19098, NA10831, NA18854, NA18965
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)esv2758479
Frequency
Sample Size270
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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