A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864826



Internal ID13317450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29916203..29916221hg38UCSC Ensembl
Innerchr8:29916173..29916251hg38UCSC Ensembl
Outerchr8:29916155..29916269hg38UCSC Ensembl
chr8:29773719..29773737hg19UCSC Ensembl
Innerchr8:29773689..29773767hg19UCSC Ensembl
Outerchr8:29773671..29773785hg19UCSC Ensembl
chr8:29893261..29893279hg18UCSC Ensembl
Innerchr8:29893309..29893231hg18UCSC Ensembl
Outerchr8:29893213..29893327hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3333245
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864826
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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