A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv914n54



Internal ID20134338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248576215..248652258hg38UCSC Ensembl
chr1:248739516..248815559hg19UCSC Ensembl
chr1:246806139..246882182hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3876044
hg1976044
hg1876044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549662, nsv549695, nsv549694, nsv549679, nsv549663, nsv549678, nsv549711, nsv549718, nsv549704
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv914n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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