A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758619



Internal ID9980696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13679727..13995119hg38UCSC Ensembl
Innerchr8:13537236..13852628hg19UCSC Ensembl
Innerchr8:13581607..13896999hg18UCSC Ensembl
Innerchr8:13581607..13896999hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38315393
hg19315393
hg18315393
hg17315393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759595
Supporting Variantsessv7771
SamplesNA18542
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)esv2758619
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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