A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8911848



Internal ID13069627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:6638264..6638282hg38UCSC Ensembl
Innerchr3:6638266..6638278hg38UCSC Ensembl
Outerchr3:6638248..6638298hg38UCSC Ensembl
chr3:6679951..6679969hg19UCSC Ensembl
Innerchr3:6679953..6679965hg19UCSC Ensembl
Outerchr3:6679935..6679985hg19UCSC Ensembl
chr3:6654951..6654969hg18UCSC Ensembl
Innerchr3:6654965..6654953hg18UCSC Ensembl
Outerchr3:6654935..6654985hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323756
Supporting Variants
SamplesNA12156
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8911848
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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