A curated catalogue of human genomic structural variation




Variant Details

Variant: essv287



Internal ID9624273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:198357..653718hg38UCSC Ensembl
Innerchr6:198357..653718hg19UCSC Ensembl
Innerchr6:143357..598718hg18UCSC Ensembl
Innerchr6:143357..598718hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38455362
hg19455362
hg18455362
hg17455362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758034
Supporting Variants
SamplesNA18978
Known GenesDUSP22, EXOC2, IRF4
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)essv287
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