A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606318



Internal ID6993254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113600969..113614543hg38UCSC Ensembl
chr5:112936666..112950240hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3813575
hg1913575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12023527, essv12023526
SamplesHG01524, NA10847
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606318
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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