A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982363



Internal ID12973613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:77756922..78059423hg38UCSC Ensembl
Innerchr8:78669157..78971658hg19UCSC Ensembl
Innerchr8:78831712..79134213hg18UCSC Ensembl
Innerchr8:78831712..79134213hg17UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38302502
hg19302502
hg18302502
hg17302502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752267
Supporting Variants
SamplesBEC_427
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982363
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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