A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751974



Internal ID12638840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100635326..100757869hg38UCSC Ensembl
Innerchr3:100354170..100476713hg19UCSC Ensembl
Innerchr3:101836860..101959403hg18UCSC Ensembl
Innerchr3:101836860..101959403hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38122544
hg19122544
hg18122544
hg17122544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183e55
Supporting Variantsessv6984756, essv6987671, essv6988844, essv6984755
SamplesSPC_174
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)esv2751974
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