A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694183



Internal ID13693210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:93791418..93799816hg38UCSC Ensembl
Innerchr3:93792418..93798816hg38UCSC Ensembl
Outerchr3:93790418..93800816hg38UCSC Ensembl
chr3:93510262..93518660hg19UCSC Ensembl
Innerchr3:93511262..93517660hg19UCSC Ensembl
Outerchr3:93509262..93519660hg19UCSC Ensembl
chr3:94992952..95001350hg18UCSC Ensembl
Innerchr3:94993952..95000350hg18UCSC Ensembl
Outerchr3:94991952..95002350hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg388399
hg198399
hg188399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3438490
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694183
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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