A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864835



Internal ID12970782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38204647..38204659hg38UCSC Ensembl
Innerchr8:38204624..38204682hg38UCSC Ensembl
Outerchr8:38204612..38204694hg38UCSC Ensembl
chr8:38062165..38062177hg19UCSC Ensembl
Innerchr8:38062142..38062200hg19UCSC Ensembl
Outerchr8:38062130..38062212hg19UCSC Ensembl
chr8:38181322..38181334hg18UCSC Ensembl
Innerchr8:38181357..38181299hg18UCSC Ensembl
Outerchr8:38181287..38181369hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421040
Supporting Variants
SamplesNA12005
Known GenesBAG4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864835
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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