A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915457



Internal ID14885605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128324235..128324253hg38UCSC Ensembl
Innerchr3:128324232..128324253hg38UCSC Ensembl
Outerchr3:128324217..128324271hg38UCSC Ensembl
chr3:128043078..128043096hg19UCSC Ensembl
Innerchr3:128043075..128043096hg19UCSC Ensembl
Outerchr3:128043060..128043114hg19UCSC Ensembl
chr3:129525768..129525786hg18UCSC Ensembl
Innerchr3:129525786..129525765hg18UCSC Ensembl
Outerchr3:129525750..129525804hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390686
Supporting Variants
SamplesNA19129
Known GenesEEFSEC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915457
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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