A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758624



Internal ID9980701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:115886100..116169362hg38UCSC Ensembl
Innerchr8:116898326..117181587hg19UCSC Ensembl
Innerchr8:116967502..117250765hg18UCSC Ensembl
Innerchr8:116967502..117250765hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38283263
hg19283262
hg18283264
hg17283264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759637
Supporting Variantsessv6975
SamplesNA18582
Known GenesLINC00536, MIR6507
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)esv2758624
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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