A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333574



Internal ID15180561
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 StatusM
Merged Variants
Supporting Variantsessv8673036, essv8673035
SamplesNA19238, NA19240
Known GenesRAD51B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333574
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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