A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3549



Internal ID9625028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68570165..68725725hg38UCSC Ensembl
Innerchr18:66237402..66392962hg19UCSC Ensembl
Innerchr18:64388382..64543942hg18UCSC Ensembl
Innerchr18:64388382..64543942hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38155561
hg19155561
hg18155561
hg17155561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758479, esv2758480
Supporting Variants
SamplesNA18965
Known GenesCCDC102B, TMX3
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)essv3549
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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