A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986331



Internal ID12628016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97558896..97715596hg38UCSC Ensembl
Innerchr8:98571124..98727824hg19UCSC Ensembl
Innerchr8:98640300..98797000hg18UCSC Ensembl
Innerchr8:98640300..98797000hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38156701
hg19156701
hg18156701
hg17156701
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)essv6986331
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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