A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302497



Internal ID15149444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232583305..232583384hg38UCSC Ensembl
Innerchr2:232583344..232583344hg38UCSC Ensembl
Outerchr2:232583205..232583484hg38UCSC Ensembl
chr2:233448015..233448094hg19UCSC Ensembl
Innerchr2:233448054..233448054hg19UCSC Ensembl
Outerchr2:233447915..233448194hg19UCSC Ensembl
chr2:233156259..233156338hg18UCSC Ensembl
Innerchr2:233156298..233156298hg18UCSC Ensembl
Outerchr2:233156159..233156438hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731384
SamplesNA12878
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302497
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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