A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309768



Internal ID14810033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:157263488..157263489hg38UCSC Ensembl
Innerchr3:157263459..157263518hg38UCSC Ensembl
Outerchr3:157263458..157263519hg38UCSC Ensembl
chr3:156981277..156981278hg19UCSC Ensembl
Innerchr3:156981248..156981307hg19UCSC Ensembl
Outerchr3:156981247..156981308hg19UCSC Ensembl
chr3:158463971..158463972hg18UCSC Ensembl
Innerchr3:158464001..158463942hg18UCSC Ensembl
Outerchr3:158463941..158464002hg18UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38215
hg19215
hg18215
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837728, essv7837493, essv7838872
SamplesNA19238, NA12892, NA19240
Known GenesVEPH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309768
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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