A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984469



Internal ID12977029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16813719..16939220hg38UCSC Ensembl
Innerchr8:16671228..16796729hg19UCSC Ensembl
Innerchr8:16715599..16841100hg18UCSC Ensembl
Innerchr8:16715599..16841100hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38125502
hg19125502
hg18125502
hg17125502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752245
Supporting Variants
SamplesBEC_708
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984469
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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