A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378041



Internal ID14878309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15003794..15019592hg38UCSC Ensembl
Innerchr16:15004794..15018592hg38UCSC Ensembl
Outerchr16:15002794..15020592hg38UCSC Ensembl
chr16:15097651..15113449hg19UCSC Ensembl
Innerchr16:15098651..15112449hg19UCSC Ensembl
Outerchr16:15096651..15114449hg19UCSC Ensembl
chr16:15005152..15020950hg18UCSC Ensembl
Innerchr16:15006152..15019950hg18UCSC Ensembl
Outerchr16:15004152..15021950hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3815799
hg1915799
hg1815799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689865
SamplesNA19238
Known GenesMIR1972-1, MIR1972-2, PDXDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378041
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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