A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639403



Internal ID6679496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83951646..83954692hg38UCSC Ensembl
Innerchr16:83951676..83954663hg38UCSC Ensembl
Outerchr16:83951617..83954722hg38UCSC Ensembl
chr16:83985251..83988297hg19UCSC Ensembl
Innerchr16:83985281..83988268hg19UCSC Ensembl
Outerchr16:83985222..83988327hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg383047
hg193047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545723, essv15545724
SamplesHG03829, NA19440
Known GenesOSGIN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639403
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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