A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11627



Internal ID9608811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4751182..5045416hg38UCSC Ensembl
Innerchr8:4608704..4902938hg19UCSC Ensembl
Innerchr8:4596112..4890346hg18UCSC Ensembl
Innerchr8:4596112..4890346hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38294235
hg19294235
hg18294235
hg17294235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758146
Supporting Variants
SamplesNA19154
Known GenesCSMD1
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)essv11627
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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