A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837728



Internal ID13373608
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 StatusS
Merged Variantsesv3309768
Supporting Variants
SamplesNA12892
Known GenesVEPH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837728
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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