A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15569967



Internal ID2935843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:90020213..90097271hg38UCSC Ensembl
Innerchr16:90020363..90097121hg38UCSC Ensembl
Outerchr16:90020063..90097421hg38UCSC Ensembl
chr16:90086621..90163679hg19UCSC Ensembl
Innerchr16:90086771..90163529hg19UCSC Ensembl
Outerchr16:90086471..90163829hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3877059
hg1977059
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639606
Supporting Variants
SamplesHG02595
Known GenesC16orf3, GAS8, PRDM7, URAHP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15569967
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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