A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2868



Internal ID9969476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131676282..131806443hg38UCSC Ensembl
Innerchr4:132597437..132727598hg19UCSC Ensembl
Innerchr4:132816887..132947048hg18UCSC Ensembl
Innerchr4:132955042..133085203hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38130162
hg19130162
hg18130162
hg17130162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757954
Supporting Variants
SamplesNA18953
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)essv2868
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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