A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758508



Internal ID9980585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:79360..83302hg38UCSC Ensembl
Innerchr20:60001..63943hg19UCSC Ensembl
Innerchr20:8001..11943hg18UCSC Ensembl
Innerchr20:8001..11943hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383943
hg193943
hg183943
hg173943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758776
Supporting Variantsessv23850
SamplesNA07022
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)esv2758508
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer