A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396858



Internal ID14897135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135392877..135392919hg38UCSC Ensembl
Innerchr6:135392879..135392917hg38UCSC Ensembl
Outerchr6:135392875..135392921hg38UCSC Ensembl
chr6:135714015..135714057hg19UCSC Ensembl
Innerchr6:135714017..135714055hg19UCSC Ensembl
Outerchr6:135714013..135714059hg19UCSC Ensembl
chr6:135755708..135755750hg18UCSC Ensembl
Innerchr6:135755710..135755748hg18UCSC Ensembl
Outerchr6:135755706..135755752hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864655
SamplesNA12005
Known GenesAHI1, MIR548H4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396858
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