A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv40n54



Internal ID22767935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1706566..1749003hg38UCSC Ensembl
chr1:1638005..1680442hg19UCSC Ensembl
chr1:1627865..1670302hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3842438
hg1942438
hg1842438
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545033, nsv545034, nsv545037
Samples
Known GenesCDK11A, CDK11B, SLC35E2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv40n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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