A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12038546



Internal ID592793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120244714..120262432hg38UCSC Ensembl
chr5:119580409..119598127hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3817719
hg1917719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606516
Supporting Variants
SamplesHG00259
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12038546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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