A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11972



Internal ID9609194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67911288..68147646hg38UCSC Ensembl
Innerchr4:68777006..69013364hg19UCSC Ensembl
Innerchr4:68459601..68695959hg18UCSC Ensembl
Innerchr4:68605772..68842130hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38236359
hg19236359
hg18236359
hg17236359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757939
Supporting Variants
SamplesNA18517
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11F, TMPRSS11GP
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)essv11972
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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