A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2592



Internal ID9971551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49503304..49744792hg38UCSC Ensembl
Innerchr8:50415863..50657352hg19UCSC Ensembl
Innerchr8:50578416..50819905hg18UCSC Ensembl
Innerchr8:50578416..50819905hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38241489
hg19241490
hg18241490
hg17241490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758157
Supporting Variants
SamplesNA18990
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)essv2592
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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