A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843528



Internal ID15084287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:121226392..121227212hg38UCSC Ensembl
Outerchr6:121226392..121227212hg38UCSC Ensembl
Innerchr6:121547538..121548358hg19UCSC Ensembl
Outerchr6:121547538..121548358hg19UCSC Ensembl
Innerchr6:121590057..121589237hg18UCSC Ensembl
Outerchr6:121589237..121590057hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38448
hg19448
hg18448
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310442
Supporting Variants
SamplesNA19240
Known GenesTBC1D32
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843528
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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