A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604568



Internal ID6991596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30966196..31120903hg38UCSC Ensembl
chr5:30966303..31121010hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38154708
hg19154708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11854701, essv11854702
SamplesNA12717, NA20289
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604568
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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