A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5129n54



Internal ID22773024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55760694..55793775hg38UCSC Ensembl
chr16:55794606..55827687hg19UCSC Ensembl
chr16:54352107..54385188hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3833082
hg1933082
hg1833082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572652, nsv572670, nsv572643, nsv572664
Samples
Known GenesCES1P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5129n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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