A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759285



Internal ID9981430
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 StatusM
Merged Variants
Supporting Variantsesv2757957
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)esv2759285
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer