A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978204



Internal ID12981568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2216914..2529766hg38UCSC Ensembl
Innerchr8:2164583..2386893hg19UCSC Ensembl
Innerchr8:2151990..2374300hg18UCSC Ensembl
Innerchr8:2151990..2374300hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38312853
hg19222311
hg18222311
hg17222311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34364
Supporting Variants
SamplesNA18976
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978204
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer