A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980782



Internal ID12971985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100800846..100902739hg38UCSC Ensembl
Innerchr8:101813074..101914967hg19UCSC Ensembl
Innerchr8:101882250..101984143hg18UCSC Ensembl
Innerchr8:101882250..101984143hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38101894
hg19101894
hg18101894
hg17101894
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)essv6980782
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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