A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348326



Internal ID14848591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88888444..88888837hg38UCSC Ensembl
Innerchr16:88888444..88888837hg38UCSC Ensembl
Outerchr16:88888067..88889203hg38UCSC Ensembl
chr16:88954852..88955245hg19UCSC Ensembl
Innerchr16:88954852..88955245hg19UCSC Ensembl
Outerchr16:88954475..88955611hg19UCSC Ensembl
chr16:87482353..87482746hg18UCSC Ensembl
Innerchr16:87482353..87482746hg18UCSC Ensembl
Outerchr16:87481976..87483112hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38394
hg19394
hg18394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651949
SamplesNA19240
Known GenesCBFA2T3
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348326
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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