A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24285



Internal ID9955906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:137619094..137791943hg38UCSC Ensembl
Innerchr4:138540248..138713097hg19UCSC Ensembl
Innerchr4:138759698..138932547hg18UCSC Ensembl
Innerchr4:138897853..139070702hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38172850
hg19172850
hg18172850
hg17172850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757957
Supporting Variants
SamplesNA10856
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)essv24285
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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