A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980379



Internal ID12978282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136677575..136812575hg38UCSC Ensembl
Innerchr8:137689818..137824818hg19UCSC Ensembl
Innerchr8:137759000..137894000hg18UCSC Ensembl
Innerchr8:137759000..137894000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38135001
hg19135001
hg18135001
hg17135001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34900
Supporting Variants
SamplesNA07357
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980379
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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