A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696092



Internal ID15097166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101361548..101362946hg38UCSC Ensembl
Innerchr8:101361946..101362548hg38UCSC Ensembl
Outerchr8:101360548..101363946hg38UCSC Ensembl
chr8:102373776..102375174hg19UCSC Ensembl
Innerchr8:102374174..102374776hg19UCSC Ensembl
Outerchr8:102372776..102376174hg19UCSC Ensembl
chr8:102442952..102444350hg18UCSC Ensembl
Innerchr8:102443952..102443350hg18UCSC Ensembl
Outerchr8:102441952..102445350hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3363691
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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