A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11265054



Internal ID2339026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189123548..189127296hg38UCSC Ensembl
Innerchr3:189123548..189127296hg38UCSC Ensembl
Outerchr3:189123418..189127422hg38UCSC Ensembl
chr3:188841337..188845085hg19UCSC Ensembl
Innerchr3:188841337..188845085hg19UCSC Ensembl
Outerchr3:188841207..188845211hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg383749
hg193749
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599047
Supporting Variants
SamplesHG02078
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11265054
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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