A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738818



Internal ID13486522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81765180..81765546hg38UCSC Ensembl
Outerchr16:81764980..81765746hg38UCSC Ensembl
Innerchr16:81798785..81799151hg19UCSC Ensembl
Outerchr16:81798585..81799351hg19UCSC Ensembl
Innerchr16:80356286..80356652hg18UCSC Ensembl
Outerchr16:80356086..80356852hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38767
hg19767
hg18767
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302818
Supporting Variants
SamplesNA12717
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738818
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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