A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20171



Internal ID9618305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131023910..131362496hg38UCSC Ensembl
Innerchr2:131781483..132120069hg19UCSC Ensembl
Innerchr2:131497953..131836539hg18UCSC Ensembl
Innerchr2:131615215..131953801hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38338587
hg19338587
hg18338587
hg17338587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757834
Supporting Variants
SamplesNA11832
Known GenesARHGEF4, FAM168B, LOC440910, PLEKHB2, POTEE, WTH3DI
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)essv20171
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