A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673036



Internal ID15032084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67837274..67837288hg38UCSC Ensembl
Innerchr14:67837267..67837292hg38UCSC Ensembl
Outerchr14:67837256..67837306hg38UCSC Ensembl
chr14:68303991..68304005hg19UCSC Ensembl
Innerchr14:68303984..68304009hg19UCSC Ensembl
Outerchr14:68303973..68304023hg19UCSC Ensembl
chr14:67373744..67373758hg18UCSC Ensembl
Innerchr14:67373762..67373737hg18UCSC Ensembl
Outerchr14:67373726..67373776hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3333574
Supporting Variants
SamplesNA19238
Known GenesRAD51B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673036
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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