A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353407



Internal ID15200388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88304945..88307443hg38UCSC Ensembl
Innerchr16:88305945..88306443hg38UCSC Ensembl
Outerchr16:88303945..88308443hg38UCSC Ensembl
chr16:88338551..88341049hg19UCSC Ensembl
Innerchr16:88339551..88340049hg19UCSC Ensembl
Outerchr16:88337551..88342049hg19UCSC Ensembl
chr16:86896052..86898550hg18UCSC Ensembl
Innerchr16:86897052..86897550hg18UCSC Ensembl
Outerchr16:86895052..86899550hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690476
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353407
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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