A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7751160



Internal ID14338157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18253086..18253087hg38UCSC Ensembl
Innerchr6:18253015..18253158hg38UCSC Ensembl
Outerchr6:18253014..18253159hg38UCSC Ensembl
chr6:18253317..18253318hg19UCSC Ensembl
Innerchr6:18253246..18253389hg19UCSC Ensembl
Outerchr6:18253245..18253390hg19UCSC Ensembl
chr6:18361296..18361297hg18UCSC Ensembl
Innerchr6:18361368..18361225hg18UCSC Ensembl
Outerchr6:18361224..18361369hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307418
Supporting Variants
SamplesNA18965
Known GenesDEK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7751160
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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