A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15368280



Internal ID2828761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8272667..8279110hg38UCSC Ensembl
Innerchr16:8272670..8279107hg38UCSC Ensembl
Outerchr16:8272664..8279113hg38UCSC Ensembl
chr16:8322669..8329112hg19UCSC Ensembl
Innerchr16:8322672..8329109hg19UCSC Ensembl
Outerchr16:8322666..8329115hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg386444
hg196444
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637828
Supporting Variants
SamplesHG02494
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15368280
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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