A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15478265



Internal ID1486686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52259630..52260469hg38UCSC Ensembl
Innerchr16:52259654..52260445hg38UCSC Ensembl
Outerchr16:52259606..52260493hg38UCSC Ensembl
chr16:52293542..52294381hg19UCSC Ensembl
Innerchr16:52293566..52294357hg19UCSC Ensembl
Outerchr16:52293518..52294405hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638625
Supporting Variants
SamplesHG01366
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15478265
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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