A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv291n100



Internal ID22786378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113297729..113426795hg38UCSC Ensembl
chr1:113840351..113969417hg19UCSC Ensembl
chr1:113641874..113770940hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38129067
hg19129067
hg18129067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999873, nsv1010110, nsv1014757
Samples
Known GenesMAGI3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv291n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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