A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757877



Internal ID9633336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:76118144..76803223hg38UCSC Ensembl
Innerchr3:76167295..76852374hg19UCSC Ensembl
Innerchr3:76249985..76935064hg18UCSC Ensembl
Innerchr3:76249985..76935064hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38685080
hg19685080
hg18685080
hg17685080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759157
Supporting Variantsessv7286, essv21828
SamplesNA18592, NA11839
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)esv2757877
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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