A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5954n54



Internal ID20139378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57046933..57079287hg38UCSC Ensembl
chr18:54714164..54746518hg19UCSC Ensembl
chr18:52865162..52897516hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3832355
hg1932355
hg1832355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv577021, nsv577022
SamplesHGDP01152
Known GenesLINC-ROR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5954n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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