A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310442



Internal ID15157393
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 StatusM
Merged Variants
Supporting Variantsessv7843528
SamplesNA19240
Known GenesTBC1D32
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310442
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer