A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751966



Internal ID12638832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100580466..100749656hg38UCSC Ensembl
Innerchr3:100299310..100468500hg19UCSC Ensembl
Innerchr3:101782000..101951190hg18UCSC Ensembl
Innerchr3:101782000..101951190hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38169191
hg19169191
hg18169191
hg17169191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv182e55
Supporting Variantsessv6983044, essv6988618, essv6983043, essv6986334
SamplesBEC_536
Known GenesABI3BP, GPR128, TFG
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)esv2751966
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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