A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv43n82



Internal ID22782877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5641601..5657386hg38UCSC Ensembl
chr2:5781733..5797518hg19UCSC Ensembl
chr2:5699184..5714969hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3815786
hg1915786
hg1815786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv961948, nsv961014
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)dgv43n82
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