A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15363263



Internal ID5365079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3653616..3669650hg38UCSC Ensembl
Innerchr16:3653616..3669650hg38UCSC Ensembl
Outerchr16:3653437..3669840hg38UCSC Ensembl
chr16:3703617..3719651hg19UCSC Ensembl
Innerchr16:3703617..3719651hg19UCSC Ensembl
Outerchr16:3703438..3719841hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3816035
hg1916035
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637673
Supporting Variants
SamplesHG01606
Known GenesDNASE1, TRAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15363263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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