A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472402



Internal ID5511397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47084579..47088036hg38UCSC Ensembl
Innerchr16:47084579..47088036hg38UCSC Ensembl
Outerchr16:47084425..47088146hg38UCSC Ensembl
chr16:47118490..47121947hg19UCSC Ensembl
Innerchr16:47118490..47121947hg19UCSC Ensembl
Outerchr16:47118336..47122057hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383458
hg193458
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638547
Supporting Variants
SamplesNA18989
Known GenesNETO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472402
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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