A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7748834



Internal ID14154399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:78832386..78832387hg38UCSC Ensembl
Innerchr6:78832341..78832432hg38UCSC Ensembl
Outerchr6:78832340..78832433hg38UCSC Ensembl
chr6:79542103..79542104hg19UCSC Ensembl
Innerchr6:79542058..79542149hg19UCSC Ensembl
Outerchr6:79542057..79542150hg19UCSC Ensembl
chr6:79598822..79598823hg18UCSC Ensembl
Innerchr6:79598868..79598777hg18UCSC Ensembl
Outerchr6:79598776..79598869hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38190
hg19190
hg18190
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307816
Supporting Variants
SamplesNA18571
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7748834
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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