A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3322538



Internal ID15169512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232575254..232575312hg38UCSC Ensembl
Innerchr2:232575266..232575300hg38UCSC Ensembl
Outerchr2:232575242..232575324hg38UCSC Ensembl
chr2:233439964..233440022hg19UCSC Ensembl
Innerchr2:233439976..233440010hg19UCSC Ensembl
Outerchr2:233439952..233440034hg19UCSC Ensembl
chr2:233148208..233148266hg18UCSC Ensembl
Innerchr2:233148220..233148254hg18UCSC Ensembl
Outerchr2:233148196..233148278hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671036, essv8671035, essv8671038, essv8671037
SamplesNA12891, NA19238, NA19239, NA12878
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3322538
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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