A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987381



Internal ID12635178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17506112..17725611hg38UCSC Ensembl
Innerchr8:17363621..17583120hg19UCSC Ensembl
Innerchr8:17408000..17627400hg18UCSC Ensembl
Innerchr8:17408000..17627400hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38219500
hg19219500
hg18219401
hg17219401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34867
Supporting Variants
SamplesNA19012
Known GenesMTUS1, PDGFRL, SLC7A2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987381
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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