A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596730



Internal ID6984044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:80644922..80767716hg38UCSC Ensembl
chr3:80694073..80816867hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38122795
hg19122795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11053472, essv11053471
SamplesHG00245, HG01161
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596730
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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