A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983035



Internal ID12627999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97558921..97728191hg38UCSC Ensembl
Innerchr8:98571149..98740419hg19UCSC Ensembl
Innerchr8:98640325..98809595hg18UCSC Ensembl
Innerchr8:98640325..98809595hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38169271
hg19169271
hg18169271
hg17169271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752271
Supporting Variants
SamplesBEC_535
Known GenesMTDH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983035
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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