A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22748



Internal ID9954149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189487893..189773942hg38UCSC Ensembl
Innerchr4:190409047..190695096hg19UCSC Ensembl
Innerchr4:190646041..190932090hg18UCSC Ensembl
Innerchr4:190784196..191070245hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38286050
hg19286050
hg18286050
hg17286050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757976
Supporting Variants
SamplesNA07019
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)essv22748
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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