A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17839



Internal ID9955091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:132232705..132376994hg38UCSC Ensembl
Innerchr4:133153860..133298149hg19UCSC Ensembl
Innerchr4:133373310..133517599hg18UCSC Ensembl
Innerchr4:133511465..133655754hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38144290
hg19144290
hg18144290
hg17144290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757955
Supporting Variants
SamplesNA10831
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)essv17839
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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