A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23402



Internal ID9621895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68380517..68536163hg38UCSC Ensembl
Innerchr4:69246235..69401881hg19UCSC Ensembl
Innerchr4:68928830..69084476hg18UCSC Ensembl
Innerchr4:69075001..69230647hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38155647
hg19155647
hg18155647
hg17155647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757940
Supporting Variants
SamplesNA10854
Known GenesTMPRSS11E
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)essv23402
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