A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980258



Internal ID12978096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8252968..8269778hg38UCSC Ensembl
Innerchr8:8110490..8127300hg19UCSC Ensembl
Innerchr8:8147900..8164710hg18UCSC Ensembl
Innerchr8:8147900..8164710hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3816811
hg1916811
hg1816811
hg1716811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34576
Supporting Variants
SamplesNA06991
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980258
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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