A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12831



Internal ID9610149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130046..283973hg38UCSC Ensembl
Innerchr8:80046..233973hg19UCSC Ensembl
Innerchr8:70046..223973hg18UCSC Ensembl
Innerchr8:70046..223973hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38153928
hg19153928
hg18153928
hg17153928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758144
Supporting Variants
SamplesNA19120
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)essv12831
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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