A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731025



Internal ID13722624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81765100..81765606hg38UCSC Ensembl
Innerchr16:81765200..81765506hg38UCSC Ensembl
Outerchr16:81765000..81765706hg38UCSC Ensembl
chr16:81798705..81799211hg19UCSC Ensembl
Innerchr16:81798805..81799111hg19UCSC Ensembl
Outerchr16:81798605..81799311hg19UCSC Ensembl
chr16:80356206..80356712hg18UCSC Ensembl
Innerchr16:80356306..80356612hg18UCSC Ensembl
Outerchr16:80356106..80356812hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38507
hg19507
hg18507
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302609
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731025
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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