A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv59n68



Internal ID6317584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43846984..44098724hg19UCSC Ensembl
chr2:43700488..43952228hg18UCSC Ensembl
chr2:43758635..44010375hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv833914, nsv833925
Samples
Known GenesABCG5, ABCG8, DYNC2LI1, LOC728819, PLEKHH2
Method
Analysis
Platform
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)dgv59n68
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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