A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501378



Internal ID4282477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66940449..67019762hg38UCSC Ensembl
chr16:66974352..67053665hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3879314
hg1979314
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638874
Supporting Variants
SamplesHG03848
Known GenesCES2, CES3, CES4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501378
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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