A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34743



Internal ID12990779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:53739594..53850458hg38UCSC Ensembl
Innerchr13:54313729..54424593hg19UCSC Ensembl
Innerchr13:53211730..53322594hg18UCSC Ensembl
Innerchr13:53211730..53322594hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38110865
hg19110865
hg18110865
hg17110865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979617, essv6979618
SamplesNA18582
Known GenesLINC00558
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)esv34743
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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