A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606861



Internal ID6993796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135417917..135422416hg38UCSC Ensembl
chr5:134753607..134758106hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12067191, essv12067190
SamplesNA12273, HG02307
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606861
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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