A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161384



Internal ID7906098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6504868..6924071hg38UCSC Ensembl
Innerchr8:6362389..6781593hg19UCSC Ensembl
Innerchr8:6349797..6769003hg18UCSC Ensembl
Innerchr8:6349797..6769003hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38419204
hg19419205
hg18419207
hg17419207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422383
Supporting Variants
SamplesND00672
Known GenesAGPAT5, ANGPT2, DEFB1, LOC100652791, MCPH1, MIR4659A, MIR4659B, MIR8055, XKR5
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161384
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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