A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915128



Internal ID14372819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:116582794..116582858hg38UCSC Ensembl
Innerchr3:116582796..116582854hg38UCSC Ensembl
Outerchr3:116582732..116582920hg38UCSC Ensembl
chr3:116301641..116301705hg19UCSC Ensembl
Innerchr3:116301643..116301701hg19UCSC Ensembl
Outerchr3:116301579..116301767hg19UCSC Ensembl
chr3:117784331..117784395hg18UCSC Ensembl
Innerchr3:117784391..117784333hg18UCSC Ensembl
Outerchr3:117784269..117784457hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323936
Supporting Variants
SamplesNA18861
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915128
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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