A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758480



Internal ID9633939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68581540..68725725hg38UCSC Ensembl
Innerchr18:66248777..66392962hg19UCSC Ensembl
Innerchr18:64399757..64543942hg18UCSC Ensembl
Innerchr18:64399757..64543942hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38144186
hg19144186
hg18144186
hg17144186
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 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)esv2758480
Frequency
Sample Size270
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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