A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349161



Internal ID15196143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121226447..121227180hg38UCSC Ensembl
Innerchr6:121226447..121227180hg38UCSC Ensembl
Outerchr6:121226323..121227254hg38UCSC Ensembl
chr6:121547593..121548326hg19UCSC Ensembl
Innerchr6:121547593..121548326hg19UCSC Ensembl
Outerchr6:121547469..121548400hg19UCSC Ensembl
chr6:121589292..121590025hg18UCSC Ensembl
Innerchr6:121589292..121590025hg18UCSC Ensembl
Outerchr6:121589168..121590099hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38734
hg19734
hg18734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652304
SamplesNA19240
Known GenesTBC1D32
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349161
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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