A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2005n54



Internal ID20135429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72570840..72625520hg38UCSC Ensembl
chr11:72281884..72336564hg19UCSC Ensembl
chr11:71959532..72014212hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3854681
hg1954681
hg1854681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv555406, nsv555407
SamplesNINDS_98
Known GenesMIR139, PDE2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2005n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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