A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8916833



Internal ID13442428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181813404..181813445hg38UCSC Ensembl
Innerchr3:181813394..181813455hg38UCSC Ensembl
Outerchr3:181813353..181813496hg38UCSC Ensembl
chr3:181531192..181531233hg19UCSC Ensembl
Innerchr3:181531182..181531243hg19UCSC Ensembl
Outerchr3:181531141..181531284hg19UCSC Ensembl
chr3:183013886..183013927hg18UCSC Ensembl
Innerchr3:183013937..183013876hg18UCSC Ensembl
Outerchr3:183013835..183013978hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3391766
Supporting Variants
SamplesNA12287
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8916833
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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