A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14350



Internal ID9611837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7091627..7248826hg38UCSC Ensembl
Innerchr8:6949149..7106348hg19UCSC Ensembl
Innerchr8:6936559..7093758hg18UCSC Ensembl
Innerchr8:6936559..7093758hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38157200
hg19157200
hg18157200
hg17157200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA19194
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)essv14350
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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