A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689938



Internal ID15055649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29481430..29487228hg38UCSC Ensembl
Innerchr16:29482430..29486228hg38UCSC Ensembl
Outerchr16:29480430..29488228hg38UCSC Ensembl
chr16:29492751..29498549hg19UCSC Ensembl
Innerchr16:29493751..29497549hg19UCSC Ensembl
Outerchr16:29491751..29499549hg19UCSC Ensembl
chr16:29400252..29406050hg18UCSC Ensembl
Innerchr16:29401252..29405050hg18UCSC Ensembl
Outerchr16:29399252..29407050hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385799
hg195799
hg185799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353784
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689938
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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