A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306224



Internal ID15153172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192080618..192080619hg38UCSC Ensembl
Innerchr3:192080596..192080641hg38UCSC Ensembl
Outerchr3:192080595..192080642hg38UCSC Ensembl
chr3:191798407..191798408hg19UCSC Ensembl
Innerchr3:191798385..191798430hg19UCSC Ensembl
Outerchr3:191798384..191798431hg19UCSC Ensembl
chr3:193281101..193281102hg18UCSC Ensembl
Innerchr3:193281124..193281079hg18UCSC Ensembl
Outerchr3:193281078..193281125hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381690
hg191690
hg181690
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7768938
SamplesNA12287
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306224
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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