A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10643



Internal ID9967075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28167321..28596947hg38UCSC Ensembl
Innerchr15:28412467..28842093hg19UCSC Ensembl
Innerchr15:26086062..26641134hg18UCSC Ensembl
Innerchr15:26086062..26641134hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38429627
hg19429627
hg18555073
hg17555073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758373
Supporting Variants
SamplesNA18855
Known GenesGOLGA8F, GOLGA8G, HERC2, MIR4509-1, MIR4509-2, MIR4509-3
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)essv10643
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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