A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv283n21



Internal ID20132004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53798876..53848636hg38UCSC Ensembl
chr3:53832903..53882663hg19UCSC Ensembl
chr3:53807943..53857703hg18UCSC Ensembl
chr3:53807943..53857703hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3849761
hg1949761
hg1849761
hg1749761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv518466, nsv521181
Samples
Known GenesCACNA1D, CHDH, IL17RB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv283n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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