A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7742795



Internal ID13232330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:111895711..111895712hg38UCSC Ensembl
Innerchr8:111895671..111895752hg38UCSC Ensembl
Outerchr8:111895670..111895753hg38UCSC Ensembl
chr8:112907940..112907941hg19UCSC Ensembl
Innerchr8:112907900..112907981hg19UCSC Ensembl
Outerchr8:112907899..112907982hg19UCSC Ensembl
chr8:112977116..112977117hg18UCSC Ensembl
Innerchr8:112977157..112977076hg18UCSC Ensembl
Outerchr8:112977075..112977158hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303483
Supporting Variants
SamplesNA11992
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7742795
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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