A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369844



Internal ID14870103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30266130..30272928hg38UCSC Ensembl
Innerchr16:30267130..30271928hg38UCSC Ensembl
Outerchr16:30265130..30273928hg38UCSC Ensembl
chr16:30277451..30284249hg19UCSC Ensembl
Innerchr16:30278451..30283249hg19UCSC Ensembl
Outerchr16:30276451..30285249hg19UCSC Ensembl
chr16:30184952..30191750hg18UCSC Ensembl
Innerchr16:30185952..30190750hg18UCSC Ensembl
Outerchr16:30183952..30192750hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386799
hg196799
hg186799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689961
SamplesNA19238
Known GenesLOC440354, LOC595101
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369844
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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