A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638929



Internal ID6679026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69714620..69719858hg38UCSC Ensembl
chr16:69748523..69753761hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg385239
hg195239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15503748, essv15503747, essv15503746
SamplesNA19144, HG03518, HG02079
Known GenesNQO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638929
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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