A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984513



Internal ID12977102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114830832..114832039hg38UCSC Ensembl
Innerchr8:115843061..115844268hg19UCSC Ensembl
Innerchr8:115912237..115913444hg18UCSC Ensembl
Innerchr8:115912237..115913444hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg381208
hg191208
hg181208
hg171208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752194
Supporting Variants
SamplesBEC_713
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984513
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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