A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12031633



Internal ID4692035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117642054..117688591hg38UCSC Ensembl
chr5:116977749..117024286hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3846538
hg1946538
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606434
Supporting Variants
SamplesHG04212
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12031633
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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