A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303483



Internal ID15150431
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 StatusM
Merged Variants
Supporting Variantsessv7762950, essv7761065, essv7740757, essv7742795, essv7744414, essv7743560
SamplesNA07346, NA11992, NA12489, NA11894, NA12249, NA12763
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303483
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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