A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10877653



Internal ID4292990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232579112..232601128hg38UCSC Ensembl
chr2:233443822..233465838hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3822017
hg1922017
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594660
Supporting Variants
SamplesHG03854
Known GenesEIF4E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10877653
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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