A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15368191



Internal ID687317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8178501..8180515hg38UCSC Ensembl
Innerchr16:8178502..8180514hg38UCSC Ensembl
Outerchr16:8178500..8180516hg38UCSC Ensembl
chr16:8228503..8230517hg19UCSC Ensembl
Innerchr16:8228504..8230516hg19UCSC Ensembl
Outerchr16:8228502..8230518hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg382015
hg192015
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637825
Supporting Variants
SamplesHG00323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15368191
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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