A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644594



Internal ID6684660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48604616..48609671hg38UCSC Ensembl
chr19:49107873..49112928hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385056
hg195056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16072881, essv16072882, essv16072883, essv16072884
SamplesHG01485, HG00238, HG01756, HG01578
Known GenesFAM83E, SPACA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644594
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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