A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5939744



Internal ID8917147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52785748..52788361hg38UCSC Ensembl
chr14:53252466..53255079hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382614
hg192614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677927
Supporting Variants
SamplesNA18614
Known GenesGNPNAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5939744
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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