A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv284n21



Internal ID22766476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54759423..54769494hg38UCSC Ensembl
chr3:54793450..54803521hg19UCSC Ensembl
chr3:54768490..54778561hg18UCSC Ensembl
chr3:54768490..54778561hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3810072
hg1910072
hg1810072
hg1710072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv522779, nsv524822
Samples
Known GenesCACNA2D3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv284n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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