A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12062115



Internal ID5622345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130069308..130074833hg38UCSC Ensembl
chr5:129405001..129410526hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg385526
hg195526
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606770
Supporting Variants
SamplesNA19054
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12062115
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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