A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988742



Internal ID12977533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118067976..118126673hg38UCSC Ensembl
Innerchr8:119080215..119138912hg19UCSC Ensembl
Innerchr8:119149396..119208093hg18UCSC Ensembl
Innerchr8:119149396..119208093hg17UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3858698
hg1958698
hg1858698
hg1758698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752195
Supporting Variants
SamplesBEC_742
Known GenesEXT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988742
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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