A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15355207



Internal ID5357023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:296495..300305hg38UCSC Ensembl
chr16:346495..350305hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383811
hg193811
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637566
Supporting Variants
SamplesNA12761
Known GenesAXIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15355207
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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