A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987043



Internal ID12981468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49519454..49634948hg38UCSC Ensembl
Innerchr8:50432013..50547507hg19UCSC Ensembl
Innerchr8:50594566..50710060hg18UCSC Ensembl
Innerchr8:50594566..50710060hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38115495
hg19115495
hg18115495
hg17115495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34838
Supporting Variants
SamplesNA18970
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987043
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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