A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306537



Internal ID14806799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56864492..56864493hg38UCSC Ensembl
Innerchr6:56864455..56864530hg38UCSC Ensembl
Outerchr6:56864454..56864531hg38UCSC Ensembl
chr6:56729290..56729291hg19UCSC Ensembl
Innerchr6:56729253..56729328hg19UCSC Ensembl
Outerchr6:56729252..56729329hg19UCSC Ensembl
chr6:56837249..56837250hg18UCSC Ensembl
Innerchr6:56837287..56837212hg18UCSC Ensembl
Outerchr6:56837211..56837288hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381083
hg191083
hg181083
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7747229, essv7760148, essv7742202, essv7744472, essv7754974, essv7741144, essv7759228, essv7744008, essv7759924, essv7753971, essv7752702
SamplesNA18508, NA18510, NA18519, NA18498, NA19172, NA19114, NA18853, NA18523, NA18517, NA18501, NA18505
Known GenesDST
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306537
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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