A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309347



Internal ID14809611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337074..109337075hg38UCSC Ensembl
Innerchr8:109337057..109337092hg38UCSC Ensembl
Outerchr8:109337056..109337093hg38UCSC Ensembl
chr8:110349303..110349304hg19UCSC Ensembl
Innerchr8:110349286..110349321hg19UCSC Ensembl
Outerchr8:110349285..110349322hg19UCSC Ensembl
chr8:110418479..110418480hg18UCSC Ensembl
Innerchr8:110418497..110418462hg18UCSC Ensembl
Outerchr8:110418461..110418498hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842277, essv7842647
SamplesNA19238, NA19240
Known GenesENY2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309347
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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