A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758516



Internal ID9633975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23048767..23192603hg38UCSC Ensembl
Innerchr20:23029404..23173240hg19UCSC Ensembl
Innerchr20:22977404..23121240hg18UCSC Ensembl
Innerchr20:22977404..23121240hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38143837
hg19143837
hg18143837
hg17143837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758789
Supporting Variantsessv23961
SamplesNA12814
Known GenesCD93, LINC00656, THBD
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)esv2758516
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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