A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv222n21



Internal ID20131943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97787220..98209740hg38UCSC Ensembl
chr2:98403683..98826203hg19UCSC Ensembl
chr2:97770115..98192635hg18UCSC Ensembl
chr2:97862201..98284721hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38422521
hg19422521
hg18422521
hg17422521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv521568, nsv526360
Samples
Known GenesTMEM131, VWA3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv222n21
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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