A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18596



Internal ID9616553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87997399..88291967hg38UCSC Ensembl
Innerchr4:88918551..89213119hg19UCSC Ensembl
Innerchr4:89137575..89432143hg18UCSC Ensembl
Innerchr4:89275730..89570298hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38294569
hg19294569
hg18294569
hg17294569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757942
Supporting Variants
SamplesNA12234
Known GenesABCG2, PKD2, PPM1K
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)essv18596
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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