A curated catalogue of human genomic structural variation




Variant Details

Variant: essv863



Internal ID9630673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37462893..37790463hg38UCSC Ensembl
Innerchr12:37856695..38184265hg19UCSC Ensembl
Innerchr12:36142962..36470532hg18UCSC Ensembl
Innerchr12:36142962..36470532hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38327571
hg19327571
hg18327571
hg17327571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758305
Supporting Variants
SamplesNA19000
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)essv863
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