A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7286



Internal ID9629180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:76027138..76119146hg38UCSC Ensembl
Innerchr3:76076289..76168297hg19UCSC Ensembl
Innerchr3:76158979..76250987hg18UCSC Ensembl
Innerchr3:76158979..76250987hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3892009
hg1992009
hg1892009
hg1792009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757875, esv2757876, esv2757877
Supporting Variants
SamplesNA18592
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)essv7286
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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