A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596945



Internal ID6637215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:89138599..89250267hg38UCSC Ensembl
chr3:89187749..89299417hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg38111669
hg19111669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11068081
SamplesHG02882
Known GenesEPHA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596945
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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