A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3721n54



Internal ID20137145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61682190..61740839hg38UCSC Ensembl
chr14:62148908..62207557hg19UCSC Ensembl
chr14:61218661..61277310hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3858650
hg1958650
hg1858650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv564885, nsv564886
Samples
Known GenesHIF1A, HIF1A-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3721n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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