A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364240



Internal ID14864501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1092351..1093549hg38UCSC Ensembl
Innerchr16:1092549..1093351hg38UCSC Ensembl
Outerchr16:1091351..1094549hg38UCSC Ensembl
chr16:1142351..1143549hg19UCSC Ensembl
Innerchr16:1142549..1143351hg19UCSC Ensembl
Outerchr16:1141351..1144549hg19UCSC Ensembl
chr16:1082352..1083550hg18UCSC Ensembl
Innerchr16:1083352..1082550hg18UCSC Ensembl
Outerchr16:1081352..1084550hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689827
SamplesNA19239
Known GenesC1QTNF8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364240
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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