A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34867



Internal ID12644217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17488520..17725642hg38UCSC Ensembl
Innerchr8:17346029..17583151hg19UCSC Ensembl
Innerchr8:17390390..17627431hg18UCSC Ensembl
Innerchr8:17390390..17627431hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38237123
hg19237123
hg18237042
hg17237042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987381, essv6978388, essv6987382, essv6978386, essv6978387
SamplesNA19012
Known GenesMTUS1, PDGFRL, SLC7A2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34867
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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