A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381586



Internal ID14881862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6783318..6783345hg38UCSC Ensembl
Innerchr16:6783320..6783343hg38UCSC Ensembl
Outerchr16:6783316..6783347hg38UCSC Ensembl
chr16:6833319..6833346hg19UCSC Ensembl
Innerchr16:6833321..6833344hg19UCSC Ensembl
Outerchr16:6833317..6833348hg19UCSC Ensembl
chr16:6773320..6773347hg18UCSC Ensembl
Innerchr16:6773322..6773345hg18UCSC Ensembl
Outerchr16:6773318..6773349hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865848
SamplesNA12005
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381586
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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