A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740844



Internal ID15084234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30939539..30939539hg38UCSC Ensembl
Innerchr16:30939538..30939540hg38UCSC Ensembl
Outerchr16:30939489..30939589hg38UCSC Ensembl
chr16:30950860..30950860hg19UCSC Ensembl
Innerchr16:30950859..30950861hg19UCSC Ensembl
Outerchr16:30950810..30950910hg19UCSC Ensembl
chr16:30858361..30858361hg18UCSC Ensembl
Innerchr16:30858362..30858360hg18UCSC Ensembl
Outerchr16:30858311..30858411hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38922
hg19922
hg18922
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373106
Supporting Variants
SamplesNA19240
Known GenesFBXL19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740844
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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