A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758164



Internal ID9633623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:89988558..90317441hg38UCSC Ensembl
Innerchr8:91000786..91329669hg19UCSC Ensembl
Innerchr8:91069962..91398845hg18UCSC Ensembl
Innerchr8:91069962..91398845hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38328884
hg19328884
hg18328884
hg17328884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759628
Supporting Variantsessv345
SamplesNA18971
Known GenesCALB1, DECR1, LINC00534
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)esv2758164
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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