A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758716



Internal ID9634175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23190468..23347650hg38UCSC Ensembl
Innerchr18:20770432..20927614hg19UCSC Ensembl
Innerchr18:19024430..19181612hg18UCSC Ensembl
Innerchr18:19024430..19181612hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38157183
hg19157183
hg18157183
hg17157183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758473
SamplesNA18503
Known GenesCABLES1, TMEM241
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)esv2758716
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer