A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988048



Internal ID12979123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136844071hg38UCSC Ensembl
Innerchr8:137687955..137856314hg19UCSC Ensembl
Innerchr8:137757137..137925496hg18UCSC Ensembl
Innerchr8:137757137..137925496hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38168360
hg19168360
hg18168360
hg17168360
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)essv6988048
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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