A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367137



Internal ID15214113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88304945..88306243hg38UCSC Ensembl
Innerchr16:88305243..88305945hg38UCSC Ensembl
Outerchr16:88303945..88307243hg38UCSC Ensembl
chr16:88338551..88339849hg19UCSC Ensembl
Innerchr16:88338849..88339551hg19UCSC Ensembl
Outerchr16:88337551..88340849hg19UCSC Ensembl
chr16:86896052..86897350hg18UCSC Ensembl
Innerchr16:86897052..86896350hg18UCSC Ensembl
Outerchr16:86895052..86898350hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690474
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367137
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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