A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15402376



Internal ID2824827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20464549..20535766hg38UCSC Ensembl
Innerchr16:20464564..20535752hg38UCSC Ensembl
Outerchr16:20464535..20535781hg38UCSC Ensembl
chr16:20475871..20547088hg19UCSC Ensembl
Innerchr16:20475886..20547074hg19UCSC Ensembl
Outerchr16:20475857..20547103hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3871218
hg1971218
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638141
Supporting Variants
SamplesHG02493
Known GenesACSM2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15402376
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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