A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15494732



Internal ID978918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:60047193..60064647hg38UCSC Ensembl
Innerchr16:60047195..60064645hg38UCSC Ensembl
Outerchr16:60047191..60064649hg38UCSC Ensembl
chr16:60081097..60098551hg19UCSC Ensembl
Innerchr16:60081099..60098549hg19UCSC Ensembl
Outerchr16:60081095..60098553hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3817455
hg1917455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638758
Supporting Variants
SamplesHG00608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15494732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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