A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1593



Internal ID9613591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24175106..24499496hg38UCSC Ensembl
Innerchr15:24420253..24744643hg19UCSC Ensembl
Innerchr15:21971346..22295736hg18UCSC Ensembl
Innerchr15:21971346..22295736hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38324391
hg19324391
hg18324391
hg17324391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758371
Supporting Variants
SamplesNA18942
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)essv1593
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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