A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34280



Internal ID12990319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143168618..143243233hg38UCSC Ensembl
Innerchr3:142887460..142962075hg19UCSC Ensembl
Innerchr3:144370150..144444765hg18UCSC Ensembl
Innerchr3:144370158..144444773hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3874616
hg1974616
hg1874616
hg1774616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980264, essv6980265, essv6980263, essv6980262
SamplesNA06993
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)esv34280
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