A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693554



Internal ID15036471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239467221..239468219hg38UCSC Ensembl
Innerchr2:239467220..239468220hg38UCSC Ensembl
Outerchr2:239466221..239469219hg38UCSC Ensembl
chr2:240388915..240389913hg19UCSC Ensembl
Innerchr2:240388914..240389914hg19UCSC Ensembl
Outerchr2:240387915..240390913hg19UCSC Ensembl
chr2:240053852..240054850hg18UCSC Ensembl
Innerchr2:240054851..240053851hg18UCSC Ensembl
Outerchr2:240052852..240055850hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370045
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693554
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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