A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303219



Internal ID15150167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37856302..37856303hg38UCSC Ensembl
Innerchr14:37856232..37856373hg38UCSC Ensembl
Outerchr14:37856231..37856374hg38UCSC Ensembl
chr14:38325507..38325508hg19UCSC Ensembl
Innerchr14:38325437..38325578hg19UCSC Ensembl
Outerchr14:38325436..38325579hg19UCSC Ensembl
chr14:37395258..37395259hg18UCSC Ensembl
Innerchr14:37395329..37395188hg18UCSC Ensembl
Outerchr14:37395187..37395330hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38783
hg19783
hg18783
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7742409, essv7744537, essv7760170
SamplesNA18498, NA18520, NA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303219
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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