A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360897



Internal ID14861158
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689859
SamplesNA19240
Known GenesMIR1972-1, MIR1972-2, PDXDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360897
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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