A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671036



Internal ID13705740
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 Flag1
Merged StatusS
Merged Variantsesv3322538
Supporting Variants
SamplesNA12891
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671036
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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