A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369576



Internal ID14869835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68996111..68997209hg38UCSC Ensembl
Innerchr3:68996209..68997111hg38UCSC Ensembl
Outerchr3:68995111..68998209hg38UCSC Ensembl
chr3:69045262..69046360hg19UCSC Ensembl
Innerchr3:69045360..69046262hg19UCSC Ensembl
Outerchr3:69044262..69047360hg19UCSC Ensembl
chr3:69127952..69129050hg18UCSC Ensembl
Innerchr3:69128952..69128050hg18UCSC Ensembl
Outerchr3:69126952..69130050hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694119
SamplesNA19239
Known GenesEOGT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369576
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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