A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv40n82



Internal ID22782874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14883874..14893208hg38UCSC Ensembl
chr18:14883873..14893207hg19UCSC Ensembl
chr18:14873873..14883207hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg389335
hg199335
hg189335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv962900, nsv962500
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv40n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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