A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16761



Internal ID9614515
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
SamplesNA18872
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)essv16761
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer