A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8912694



Internal ID15124456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:33880949..33880985hg38UCSC Ensembl
Innerchr3:33880957..33880974hg38UCSC Ensembl
Outerchr3:33880921..33881010hg38UCSC Ensembl
chr3:33922441..33922477hg19UCSC Ensembl
Innerchr3:33922449..33922466hg19UCSC Ensembl
Outerchr3:33922413..33922502hg19UCSC Ensembl
chr3:33897445..33897481hg18UCSC Ensembl
Innerchr3:33897470..33897453hg18UCSC Ensembl
Outerchr3:33897417..33897506hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg381354
hg191354
hg181354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451654
Supporting Variants
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8912694
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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