A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11112630



Internal ID1114446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:117447743..117906312hg38UCSC Ensembl
chr3:117166590..117625159hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38458570
hg19458570
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597520
Supporting Variants
SamplesHG01308
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11112630
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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