A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19983



Internal ID9618094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21149044..21598881hg38UCSC Ensembl
Innerchr5:21149153..21598990hg19UCSC Ensembl
Innerchr5:21184910..21634747hg18UCSC Ensembl
Innerchr5:21184910..21634747hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38449838
hg19449838
hg18449838
hg17449838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757988
Supporting Variants
SamplesNA07048
Known GenesGUSBP1
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)essv19983
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