A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674961



Internal ID13286908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120600101..120600119hg38UCSC Ensembl
Innerchr3:120600101..120600117hg38UCSC Ensembl
Outerchr3:120600083..120600137hg38UCSC Ensembl
chr3:120318948..120318966hg19UCSC Ensembl
Innerchr3:120318948..120318964hg19UCSC Ensembl
Outerchr3:120318930..120318984hg19UCSC Ensembl
chr3:121801638..121801656hg18UCSC Ensembl
Innerchr3:121801654..121801638hg18UCSC Ensembl
Outerchr3:121801620..121801674hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362822
Supporting Variants
SamplesNA12878
Known GenesNDUFB4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674961
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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