A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586809



Internal ID6971981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92427408..92435803hg38UCSC Ensembl
Innerchr1:92427408..92435803hg38UCSC Ensembl
Outerchr1:92427109..92436132hg38UCSC Ensembl
chr1:92892965..92901360hg19UCSC Ensembl
Innerchr1:92892965..92901360hg19UCSC Ensembl
Outerchr1:92892666..92901689hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg388396
hg198396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10017107, essv10017111, essv10017108, essv10017112, essv10017109, essv10017105, essv10017110, essv10017106
SamplesHG00384, HG00337, HG00271, HG00335, HG00182, HG00349, HG00266, HG00342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586809
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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