A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34997



Internal ID12644347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:685389..919382hg38UCSC Ensembl
Innerchr5:685504..919497hg19UCSC Ensembl
Innerchr5:738504..972497hg18UCSC Ensembl
Innerchr5:738504..972497hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38233994
hg19233994
hg18233994
hg17233994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv198e55
Supporting Variantsessv6980494, essv6988974
SamplesNA19202
Known GenesBRD9, TPPP, TRIP13, ZDHHC11
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)esv34997
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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