A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978792



Internal ID12979119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136829491hg38UCSC Ensembl
Innerchr8:137687955..137841734hg19UCSC Ensembl
Innerchr8:137757137..137910916hg18UCSC Ensembl
Innerchr8:137757137..137910916hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38153780
hg19153780
hg18153780
hg17153780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34379
Supporting Variants
SamplesNA12249
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978792
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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