A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269505



Internal ID5970527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191188558..191256228hg38UCSC Ensembl
chr3:190906347..190974017hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3867671
hg1967671
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599092
Supporting Variants
SamplesNA19380
Known GenesOSTN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269505
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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