A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2463n54



Internal ID20135887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31048783..31257887hg38UCSC Ensembl
chr12:31201717..31410821hg19UCSC Ensembl
chr12:31092984..31302088hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38209105
hg19209105
hg18209105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558035, nsv558033, nsv558032, nsv558034, nsv558036
Samples1782681287_A, HGDP00088, HGDP00105, HGDP00922, HGDP00450, HGDP00980, 1782681093_A, HGDP01386
Known GenesDDX11, DDX11-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2463n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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