A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638608



Internal ID6678705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50654254..50854693hg38UCSC Ensembl
Innerchr16:50654404..50854543hg38UCSC Ensembl
Outerchr16:50654104..50854843hg38UCSC Ensembl
chr16:50688165..50888604hg19UCSC Ensembl
Innerchr16:50688315..50888454hg19UCSC Ensembl
Outerchr16:50688015..50888754hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38200440
hg19200440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15475622
SamplesNA19457
Known GenesCYLD, NOD2, SNX20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638608
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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