A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34432



Internal ID12643785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172591201..172752581hg38UCSC Ensembl
Innerchr5:172018204..172179584hg19UCSC Ensembl
Innerchr5:171950809..172112189hg18UCSC Ensembl
Innerchr5:171950809..172112189hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38161381
hg19161381
hg18161381
hg17161381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978451, essv6986620, essv6978452, essv6978453
SamplesNA19100
Known GenesNEURL1B
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)esv34432
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