A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv451n21



Internal ID18990924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22404116..22552644hg38UCSC Ensembl
chr8:22261629..22410157hg19UCSC Ensembl
chr8:22317574..22466102hg18UCSC Ensembl
chr8:22317574..22466102hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38148529
hg19148529
hg18148529
hg17148529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv519758, nsv517680
Samples
Known GenesPPP3CC, SLC39A14, SORBS3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv451n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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