A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596857



Internal ID6984171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:86127981..86139455hg38UCSC Ensembl
Innerchr3:86127981..86139455hg38UCSC Ensembl
Outerchr3:86127481..86139955hg38UCSC Ensembl
chr3:86177131..86188605hg19UCSC Ensembl
Innerchr3:86177131..86188605hg19UCSC Ensembl
Outerchr3:86176631..86189105hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3811475
hg1911475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11063387, essv11063386
SamplesHG02455, HG03401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596857
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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