A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv299n21



Internal ID20132020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142093917..142445893hg38UCSC Ensembl
chr3:141812759..142164735hg19UCSC Ensembl
chr3:143295449..143647425hg18UCSC Ensembl
chr3:143295457..143647433hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38351977
hg19351977
hg18351977
hg17351977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv520523, nsv522549
Samples
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv299n21
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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