A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10961157



Internal ID1253398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27553268..27560334hg38UCSC Ensembl
Innerchr3:27553322..27560280hg38UCSC Ensembl
Outerchr3:27553214..27560388hg38UCSC Ensembl
chr3:27594759..27601825hg19UCSC Ensembl
Innerchr3:27594813..27601771hg19UCSC Ensembl
Outerchr3:27594705..27601879hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg387067
hg197067
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595669
Supporting Variants
SamplesHG01105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10961157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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