A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34764



Internal ID12990800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:28630585..28721209hg38UCSC Ensembl
Innerchr4:28632207..28722831hg19UCSC Ensembl
Innerchr4:28241305..28331929hg18UCSC Ensembl
Innerchr4:28308476..28399100hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3890625
hg1990625
hg1890625
hg1790625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv184e55
Supporting Variantsessv6987721, essv6980134, essv6980133
SamplesNA18959
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34764
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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