A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11992445



Internal ID490019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:99488228..99497681hg38UCSC Ensembl
chr5:98823932..98833385hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg389454
hg199454
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605942
Supporting Variants
SamplesHG00173
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11992445
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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