A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7756283



Internal ID14387222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109090985..109090986hg38UCSC Ensembl
Innerchr8:109090951..109091020hg38UCSC Ensembl
Outerchr8:109090950..109091021hg38UCSC Ensembl
chr8:110103214..110103215hg19UCSC Ensembl
Innerchr8:110103180..110103249hg19UCSC Ensembl
Outerchr8:110103179..110103250hg19UCSC Ensembl
chr8:110172390..110172391hg18UCSC Ensembl
Innerchr8:110172425..110172356hg18UCSC Ensembl
Outerchr8:110172355..110172426hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305891
Supporting Variants
SamplesNA18870
Known GenesTRHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7756283
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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