A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740812



Internal ID15083860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:98298539..98298539hg38UCSC Ensembl
Innerchr14:98298538..98298540hg38UCSC Ensembl
Outerchr14:98298489..98298589hg38UCSC Ensembl
chr14:98764876..98764876hg19UCSC Ensembl
Innerchr14:98764875..98764877hg19UCSC Ensembl
Outerchr14:98764826..98764926hg19UCSC Ensembl
chr14:97834629..97834629hg18UCSC Ensembl
Innerchr14:97834630..97834628hg18UCSC Ensembl
Outerchr14:97834579..97834679hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382052
hg192052
hg182052
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450593
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740812
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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