A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307385



Internal ID15154333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22674286..22674287hg38UCSC Ensembl
Innerchr8:22674256..22674317hg38UCSC Ensembl
Outerchr8:22674255..22674318hg38UCSC Ensembl
chr8:22531799..22531800hg19UCSC Ensembl
Innerchr8:22531769..22531830hg19UCSC Ensembl
Outerchr8:22531768..22531831hg19UCSC Ensembl
chr8:22587744..22587745hg18UCSC Ensembl
Innerchr8:22587775..22587714hg18UCSC Ensembl
Outerchr8:22587713..22587776hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744973, essv7757863, essv7740374, essv7745602, essv7748717, essv7745206, essv7751831
SamplesNA18592, NA18959, NA18951, NA18956, NA18555, NA18542, NA18552
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307385
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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