A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34514



Internal ID12990551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36109315..36150004hg38UCSC Ensembl
Innerchr17:34436708..34477386hg19UCSC Ensembl
Innerchr17:31460821..31501499hg18UCSC Ensembl
Innerchr17:31460821..31501499hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3840690
hg1940679
hg1840679
hg1740679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121e55
Supporting Variantsessv6988321, essv6980827
SamplesNA19131
Known Genes
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)esv34514
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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