A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415009



Internal ID15261968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232583336..232583413hg38UCSC Ensembl
Innerchr2:232583359..232583388hg38UCSC Ensembl
Outerchr2:232583311..232583436hg38UCSC Ensembl
chr2:233448046..233448123hg19UCSC Ensembl
Innerchr2:233448069..233448098hg19UCSC Ensembl
Outerchr2:233448021..233448146hg19UCSC Ensembl
chr2:233156290..233156367hg18UCSC Ensembl
Innerchr2:233156313..233156342hg18UCSC Ensembl
Outerchr2:233156265..233156390hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671039
SamplesNA12878
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415009
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