A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865910



Internal ID13318121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47131074..47131088hg38UCSC Ensembl
Innerchr16:47131049..47131113hg38UCSC Ensembl
Outerchr16:47131035..47131127hg38UCSC Ensembl
chr16:47164985..47164999hg19UCSC Ensembl
Innerchr16:47164960..47165024hg19UCSC Ensembl
Outerchr16:47164946..47165038hg19UCSC Ensembl
chr16:45722486..45722500hg18UCSC Ensembl
Innerchr16:45722525..45722461hg18UCSC Ensembl
Outerchr16:45722447..45722539hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332279
Supporting Variants
SamplesNA12005
Known GenesNETO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865910
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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