A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35028



Internal ID12991064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829877..6108559hg38UCSC Ensembl
Innerchr8:3687399..5966081hg19UCSC Ensembl
Innerchr8:3674807..5953489hg18UCSC Ensembl
Innerchr8:3674807..5953489hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382278683
hg192278683
hg182278683
hg172278683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv242e55
Supporting Variantsessv6978385, essv6978383, essv6986600, essv6978384, essv6978382, essv6986601
SamplesNA19012
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)esv35028
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer