A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586708



Internal ID6974226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86832564..86834980hg38UCSC Ensembl
Innerchr1:86832579..86834965hg38UCSC Ensembl
Outerchr1:86832549..86834995hg38UCSC Ensembl
chr1:87298247..87300663hg19UCSC Ensembl
Innerchr1:87298262..87300648hg19UCSC Ensembl
Outerchr1:87298232..87300678hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg382417
hg192417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10008378, essv10008377, essv10008376
SamplesNA18962, HG01064, HG03073
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586708
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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