A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689859



Internal ID14749474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14990494..15017392hg38UCSC Ensembl
Innerchr16:14991494..15016392hg38UCSC Ensembl
Outerchr16:14989494..15018392hg38UCSC Ensembl
chr16:15084351..15111249hg19UCSC Ensembl
Innerchr16:15085351..15110249hg19UCSC Ensembl
Outerchr16:15083351..15112249hg19UCSC Ensembl
chr16:14991852..15018750hg18UCSC Ensembl
Innerchr16:14992852..15017750hg18UCSC Ensembl
Outerchr16:14990852..15019750hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3826899
hg1926899
hg1826899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3360897
Supporting Variants
SamplesNA19240
Known GenesMIR1972-1, MIR1972-2, PDXDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689859
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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