A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757947



Internal ID9980024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:103258768..103421238hg38UCSC Ensembl
Innerchr4:104179925..104342395hg19UCSC Ensembl
Innerchr4:104399374..104561844hg18UCSC Ensembl
Innerchr4:104537529..104699999hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38162471
hg19162471
hg18162471
hg17162471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759271
Supporting Variantsessv14634, essv16360, essv9772, essv10365, essv14962, essv9720
SamplesNA19222, NA18870, NA18863, NA18913, NA19193, NA19093
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)esv2757947
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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