A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35001



Internal ID12991037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36111746..36150004hg38UCSC Ensembl
Innerchr17:34439139..34477386hg19UCSC Ensembl
Innerchr17:31463252..31501499hg18UCSC Ensembl
Innerchr17:31463252..31501499hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3838259
hg1938248
hg1838248
hg1738248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121e55
Supporting Variantsessv6983907, essv6983908
SamplesBEC_730
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35001
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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