A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362822



Internal ID14863083
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 StatusM
Merged Variants
Supporting Variantsessv8674962, essv8674961
SamplesNA12891, NA12878
Known GenesNDUFB4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362822
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer