A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980781



Internal ID12971984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100800596..100896596hg38UCSC Ensembl
Innerchr8:101812824..101908824hg19UCSC Ensembl
Innerchr8:101882000..101978000hg18UCSC Ensembl
Innerchr8:101882000..101978000hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3896001
hg1996001
hg1896001
hg1796001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752193
Supporting Variants
SamplesBEC_149
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980781
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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