A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980376



Internal ID12978279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675575..136850575hg38UCSC Ensembl
Innerchr8:137687818..137862818hg19UCSC Ensembl
Innerchr8:137757000..137932000hg18UCSC Ensembl
Innerchr8:137757000..137932000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38175001
hg19175001
hg18175001
hg17175001
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980376
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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