A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307265



Internal ID15154213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20854920..20854921hg38UCSC Ensembl
Innerchr14:20854807..20855034hg38UCSC Ensembl
Outerchr14:20854806..20855035hg38UCSC Ensembl
chr14:21323079..21323080hg19UCSC Ensembl
Innerchr14:21322966..21323193hg19UCSC Ensembl
Outerchr14:21322965..21323194hg19UCSC Ensembl
chr14:20392919..20392920hg18UCSC Ensembl
Innerchr14:20393033..20392806hg18UCSC Ensembl
Outerchr14:20392805..20393034hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761377, essv7762821, essv7746708
SamplesNA19138, NA10847, NA18499
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307265
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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