A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986558



Internal ID12981570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2178209..2530849hg38UCSC Ensembl
Innerchr8:2126400..2387976hg19UCSC Ensembl
Innerchr8:2113807..2375383hg18UCSC Ensembl
Innerchr8:2113807..2375383hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38352641
hg19261577
hg18261577
hg17261577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34364
Supporting Variants
SamplesNA18976
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986558
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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