A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586599



Internal ID6974117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:80584961..80602213hg38UCSC Ensembl
chr1:81050646..81067898hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3817253
hg1917253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9989328
SamplesHG02490
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586599
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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