A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17953



Internal ID9615839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1623665..1813048hg38UCSC Ensembl
Innerchr4:1625392..1814775hg19UCSC Ensembl
Innerchr4:1595351..1784573hg18UCSC Ensembl
Innerchr4:1592784..1782006hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38189384
hg19189384
hg18189223
hg17189223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757917
Supporting Variants
SamplesNA12003
Known GenesFAM53A, FGFR3, LETM1, SLBP, TACC3, TMEM129
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)essv17953
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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