A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501390



Internal ID6832961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67120700..67122379hg38UCSC Ensembl
Innerchr16:67120716..67122363hg38UCSC Ensembl
Outerchr16:67120684..67122395hg38UCSC Ensembl
chr16:67154603..67156282hg19UCSC Ensembl
Innerchr16:67154619..67156266hg19UCSC Ensembl
Outerchr16:67154587..67156298hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381680
hg191680
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638878
Supporting Variants
SamplesNA20904
Known GenesC16orf70
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501390
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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