A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv309n21



Internal ID22766501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193418687..193434619hg38UCSC Ensembl
chr3:193136476..193152408hg19UCSC Ensembl
chr3:194619170..194635102hg18UCSC Ensembl
chr3:194619178..194635110hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3815933
hg1915933
hg1815933
hg1715933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv516400, nsv527401
Samples
Known GenesATP13A4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv309n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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