A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34221



Internal ID12990260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829877..6093963hg38UCSC Ensembl
Innerchr8:3687399..5951485hg19UCSC Ensembl
Innerchr8:3674807..5938893hg18UCSC Ensembl
Innerchr8:3674807..5938893hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382264087
hg192264087
hg182264087
hg172264087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv242e55
Supporting Variantsessv6978372, essv6986595, essv6990229, essv6978371, essv6978373
SamplesNA19007
Known GenesCSMD1
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)esv34221
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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