A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308025



Internal ID15154973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67837273..67837274hg38UCSC Ensembl
Innerchr14:67837245..67837302hg38UCSC Ensembl
Outerchr14:67837244..67837303hg38UCSC Ensembl
chr14:68303990..68303991hg19UCSC Ensembl
Innerchr14:68303962..68304019hg19UCSC Ensembl
Outerchr14:68303961..68304020hg19UCSC Ensembl
chr14:67373743..67373744hg18UCSC Ensembl
Innerchr14:67373772..67373715hg18UCSC Ensembl
Outerchr14:67373714..67373773hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837739, essv7838151, essv7838421
SamplesNA12891, NA12878, NA12892
Known GenesRAD51B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308025
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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