A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589018



Internal ID6976434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226795416..226803995hg38UCSC Ensembl
chr1:226983117..226991696hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg388580
hg198580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10309570
SamplesNA20314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589018
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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