A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8644479



Internal ID15142389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232575299..232575299hg38UCSC Ensembl
Innerchr2:232575298..232575300hg38UCSC Ensembl
Outerchr2:232575259..232575319hg38UCSC Ensembl
chr2:233440009..233440009hg19UCSC Ensembl
Innerchr2:233440008..233440010hg19UCSC Ensembl
Outerchr2:233439969..233440029hg19UCSC Ensembl
chr2:233148253..233148253hg18UCSC Ensembl
Innerchr2:233148254..233148252hg18UCSC Ensembl
Outerchr2:233148213..233148273hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3399554
Supporting Variants
Samples
Known GenesEIF4E2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8644479
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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