A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7362



Internal ID9964498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49503304..49682507hg38UCSC Ensembl
Innerchr8:50415863..50595067hg19UCSC Ensembl
Innerchr8:50578416..50757620hg18UCSC Ensembl
Innerchr8:50578416..50757620hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38179204
hg19179205
hg18179205
hg17179205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758157
Supporting Variants
SamplesNA18570
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)essv7362
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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