A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2158n54



Internal ID20135582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106915702..106918766hg38UCSC Ensembl
chr11:106786428..106789492hg19UCSC Ensembl
chr11:106291638..106294702hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383065
hg193065
hg183065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556261, nsv556259, nsv556244, nsv556246, nsv556241, nsv556254, nsv556245, nsv556262, nsv556243, nsv556260, nsv556253, nsv556252, nsv556242
Samples
Known GenesGUCY1A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2158n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss228
Observed Complex0
Frequencyn/a


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