A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv289n21



Internal ID20132010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64370655..64583407hg38UCSC Ensembl
chr3:64356331..64569083hg19UCSC Ensembl
chr3:64331371..64544123hg18UCSC Ensembl
chr3:64331371..64544123hg17UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38212753
hg19212753
hg18212753
hg17212753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv522703, nsv519887
Samples
Known GenesADAMTS9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv289n21
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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