A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5130n54



Internal ID22773025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55766853..55788619hg38UCSC Ensembl
chr16:55800765..55822531hg19UCSC Ensembl
chr16:54358266..54380032hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3821767
hg1921767
hg1821767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572662, nsv572659, nsv572669, nsv572660, nsv572668, nsv572665, nsv572674, nsv572663, nsv572673, nsv572661, nsv572667, nsv572666
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5130n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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