A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390686



Internal ID15237653
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 StatusM
Merged Variants
Supporting Variantsessv8915456, essv8915457, essv8915453, essv8915452, essv8915455, essv8915451, essv8915454
SamplesNA18861, NA18870, NA18499, NA19099, NA18909, NA19093, NA19129
Known GenesEEFSEC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390686
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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