A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12038543



Internal ID592880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120238112..120260486hg38UCSC Ensembl
chr5:119573807..119596181hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3822375
hg1922375
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606513
Supporting Variants
SamplesHG00259
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12038543
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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