A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731384



Internal ID13627170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232583306..232583384hg38UCSC Ensembl
Innerchr2:232583344..232583345hg38UCSC Ensembl
Outerchr2:232583206..232583484hg38UCSC Ensembl
chr2:233448016..233448094hg19UCSC Ensembl
Innerchr2:233448054..233448055hg19UCSC Ensembl
Outerchr2:233447916..233448194hg19UCSC Ensembl
chr2:233156260..233156338hg18UCSC Ensembl
Innerchr2:233156299..233156298hg18UCSC Ensembl
Outerchr2:233156160..233156438hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302497
Supporting Variants
SamplesNA12878
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731384
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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