A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986914



Internal ID12980471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:115906597..115999597hg38UCSC Ensembl
Innerchr8:116918822..117011822hg19UCSC Ensembl
Innerchr8:116988000..117081000hg18UCSC Ensembl
Innerchr8:116988000..117081000hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3893001
hg1993001
hg1893001
hg1793001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35019
Supporting Variants
SamplesNA18582
Known GenesLINC00536, MIR6507
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986914
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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