A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757969



Internal ID9633428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:177244315..177484220hg38UCSC Ensembl
Innerchr4:178165469..178405374hg19UCSC Ensembl
Innerchr4:178402463..178642368hg18UCSC Ensembl
Innerchr4:178540618..178780523hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38239906
hg19239906
hg18239906
hg17239906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759304
Supporting Variantsessv1779
SamplesNA18997
Known GenesAGA, NEIL3
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)esv2757969
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