A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10745729



Internal ID747545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164745359..164870535hg38UCSC Ensembl
chr2:165601869..165727045hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38125177
hg19125177
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593223
Supporting Variants
SamplesNA18986
Known GenesCOBLL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10745729
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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