A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23344



Internal ID9959437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:28555640..28719643hg38UCSC Ensembl
Innerchr15:28800786..28964789hg19UCSC Ensembl
Innerchr15:26599827..26763830hg18UCSC Ensembl
Innerchr15:26599827..26763830hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38164004
hg19164004
hg18164004
hg17164004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758373
Supporting Variants
SamplesNA12750
Known GenesGOLGA8M, HERC2P9
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)essv23344
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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