A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689863



Internal ID13356550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15002094..15011692hg38UCSC Ensembl
Innerchr16:15003094..15010692hg38UCSC Ensembl
Outerchr16:15001094..15012692hg38UCSC Ensembl
chr16:15095951..15105549hg19UCSC Ensembl
Innerchr16:15096951..15104549hg19UCSC Ensembl
Outerchr16:15094951..15106549hg19UCSC Ensembl
chr16:15003452..15013050hg18UCSC Ensembl
Innerchr16:15004452..15012050hg18UCSC Ensembl
Outerchr16:15002452..15014050hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg389599
hg199599
hg189599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3430066
Supporting Variants
SamplesNA12891
Known GenesMIR1972-1, MIR1972-2, PDXDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689863
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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