A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9639169



Internal ID13344517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69511513..69511532hg38UCSC Ensembl
Innerchr8:69511509..69511536hg38UCSC Ensembl
Outerchr8:69511490..69511555hg38UCSC Ensembl
chr8:70423748..70423767hg19UCSC Ensembl
Innerchr8:70423744..70423771hg19UCSC Ensembl
Outerchr8:70423725..70423790hg19UCSC Ensembl
chr8:70586302..70586321hg18UCSC Ensembl
Innerchr8:70586325..70586298hg18UCSC Ensembl
Outerchr8:70586279..70586344hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448948
Supporting Variants
SamplesNA12043
Known GenesSULF1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9639169
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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