A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978386



Internal ID12635199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17488520..17721281hg38UCSC Ensembl
Innerchr8:17346029..17578790hg19UCSC Ensembl
Innerchr8:17390390..17623070hg18UCSC Ensembl
Innerchr8:17390390..17623070hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38232762
hg19232762
hg18232681
hg17232681
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)essv6978386
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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