A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585093



Internal ID6972617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5346403..5348778hg38UCSC Ensembl
Innerchr1:5346410..5348771hg38UCSC Ensembl
Outerchr1:5346396..5348785hg38UCSC Ensembl
chr1:5406463..5408838hg19UCSC Ensembl
Innerchr1:5406470..5408831hg19UCSC Ensembl
Outerchr1:5406456..5408845hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382376
hg192376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9845299
SamplesHG02087
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585093
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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