A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269503



Internal ID5970543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191174866..191277287hg38UCSC Ensembl
chr3:190892655..190995076hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38102422
hg19102422
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599090
Supporting Variants
SamplesNA19380
Known GenesOSTN, UTS2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269503
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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