A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752013



Internal ID12985565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:66756770..66833686hg38UCSC Ensembl
Innerchr3:66807194..66884110hg19UCSC Ensembl
Innerchr3:66889884..66966800hg18UCSC Ensembl
Innerchr3:66889884..66966800hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3876917
hg1976917
hg1876917
hg1776917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987689, essv6984807, essv6984808
SamplesSPC_180
Known Genes
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)esv2752013
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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