A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982529



Internal ID12628447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8251048..8302218hg38UCSC Ensembl
Innerchr8:8108570..8159740hg19UCSC Ensembl
Innerchr8:8145980..8197150hg18UCSC Ensembl
Innerchr8:8145980..8197150hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3851171
hg1951171
hg1851171
hg1751171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752266
Supporting Variants
SamplesBEC_563
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982529
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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