A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv903n54



Internal ID20134327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247991705..248059569hg38UCSC Ensembl
chr1:248155007..248222871hg19UCSC Ensembl
chr1:246221630..246289494hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3867865
hg1967865
hg1867865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549619, nsv549620
Samples
Known GenesOR2L13, OR2L2, OR2L5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv903n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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