A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978142



Internal ID12981483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90148696..90198196hg38UCSC Ensembl
Innerchr8:91160924..91210424hg19UCSC Ensembl
Innerchr8:91230100..91279600hg18UCSC Ensembl
Innerchr8:91230100..91279600hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3849501
hg1949501
hg1849501
hg1749501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35109
Supporting Variants
SamplesNA18971
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978142
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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