A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587133



Internal ID6974560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108508599..108541381hg38UCSC Ensembl
chr1:109051221..109084003hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3832783
hg1932783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10053067
SamplesNA11931
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587133
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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