A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22989



Internal ID9621434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119932..283973hg38UCSC Ensembl
Innerchr8:69932..233973hg19UCSC Ensembl
Innerchr8:59932..223973hg18UCSC Ensembl
Innerchr8:59932..223973hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38164042
hg19164042
hg18164042
hg17164042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758144
Supporting Variants
SamplesNA07357
Known GenesOR4F21, RPL23AP53, ZNF596
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)essv22989
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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