A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5270



Internal ID9966175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:39902153..40069343hg38UCSC Ensembl
Innerchr18:37482117..37649307hg19UCSC Ensembl
Innerchr18:35736115..35903305hg18UCSC Ensembl
Innerchr18:35736115..35903305hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38167191
hg19167191
hg18167191
hg17167191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758476
Supporting Variants
SamplesNA18624
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)essv5270
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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