A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310422



Internal ID14810687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:16224886..16225573hg38UCSC Ensembl
Outerchr2:16224886..16225573hg38UCSC Ensembl
Innerchr2:16406154..16406841hg19UCSC Ensembl
Outerchr2:16406154..16406841hg19UCSC Ensembl
Innerchr2:16270322..16269635hg18UCSC Ensembl
Outerchr2:16269635..16270322hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38559
hg19559
hg18559
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843510
SamplesNA19240
Known Genes
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310422
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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