A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987484



Internal ID12630904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8252963..8269774hg38UCSC Ensembl
Innerchr8:8110485..8127296hg19UCSC Ensembl
Innerchr8:8147895..8164706hg18UCSC Ensembl
Innerchr8:8147895..8164706hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3816812
hg1916812
hg1816812
hg1716812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752265
Supporting Variants
SamplesBEC_758
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987484
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer