A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980207



Internal ID12634751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90089111..90160753hg38UCSC Ensembl
Innerchr8:91101339..91172981hg19UCSC Ensembl
Innerchr8:91170515..91242157hg18UCSC Ensembl
Innerchr8:91170515..91242157hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3871643
hg1971643
hg1871643
hg1771643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34347
Supporting Variants
SamplesNA18968
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980207
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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