A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431181



Internal ID14931451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111096456..111097454hg38UCSC Ensembl
Innerchr6:111096455..111097455hg38UCSC Ensembl
Outerchr6:111095456..111098454hg38UCSC Ensembl
chr6:111417659..111418657hg19UCSC Ensembl
Innerchr6:111417658..111418658hg19UCSC Ensembl
Outerchr6:111416659..111419657hg19UCSC Ensembl
chr6:111524352..111525350hg18UCSC Ensembl
Innerchr6:111525351..111524351hg18UCSC Ensembl
Outerchr6:111523352..111526350hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695018
SamplesNA19239
Known GenesSLC16A10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431181
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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