A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34727



Internal ID12990763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:11825952..12302052hg38UCSC Ensembl
Innerchr20:11806600..12282700hg19UCSC Ensembl
Innerchr20:11754600..12230700hg18UCSC Ensembl
Innerchr20:11754600..12230700hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38476101
hg19476101
hg18476101
hg17476101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv168e55
Supporting Variantsessv6979167, essv6986803, essv6979169, essv6979168, essv6990334, essv6986802
SamplesNA18501
Known GenesBTBD3
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)esv34727
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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