A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv289n54



Internal ID20133713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59583022..59584949hg38UCSC Ensembl
chr1:60048694..60050621hg19UCSC Ensembl
chr1:59821282..59823209hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381928
hg191928
hg181928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546332, nsv546345, nsv546333
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv289n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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