A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21737



Internal ID9620044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68380517..68601992hg38UCSC Ensembl
Innerchr4:69246235..69467710hg19UCSC Ensembl
Innerchr4:68928830..69150305hg18UCSC Ensembl
Innerchr4:69075001..69296476hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38221476
hg19221476
hg18221476
hg17221476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757940
Supporting Variants
SamplesNA12248
Known GenesTMPRSS11E, UGT2B17
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)essv21737
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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