A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984214



Internal ID12631170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127643156..127895715hg38UCSC Ensembl
Innerchr8:128655401..128907961hg19UCSC Ensembl
Innerchr8:128724583..128977143hg18UCSC Ensembl
Innerchr8:128724583..128977143hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38252560
hg19252561
hg18252561
hg17252561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752208
Supporting Variants
SamplesBEC_806
Known GenesMIR1204, MYC, PVT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984214
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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