A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380474



Internal ID14880747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42393070..42393097hg38UCSC Ensembl
Innerchr8:42393072..42393095hg38UCSC Ensembl
Outerchr8:42393068..42393099hg38UCSC Ensembl
chr8:42250588..42250615hg19UCSC Ensembl
Innerchr8:42250590..42250613hg19UCSC Ensembl
Outerchr8:42250586..42250617hg19UCSC Ensembl
chr8:42369745..42369772hg18UCSC Ensembl
Innerchr8:42369747..42369770hg18UCSC Ensembl
Outerchr8:42369743..42369774hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864839
SamplesNA12005
Known GenesVDAC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380474
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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