A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10457



Internal ID9962400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:148398476..148584352hg38UCSC Ensembl
Innerchr3:148116263..148302139hg19UCSC Ensembl
Innerchr3:149598953..149784829hg18UCSC Ensembl
Innerchr3:149598961..149784837hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38185877
hg19185877
hg18185877
hg17185877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757896
Supporting Variants
SamplesNA18515
Known Genes
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)essv10457
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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