A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606502



Internal ID6993438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119953848..120031327hg38UCSC Ensembl
chr5:119289543..119367022hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3877480
hg1977480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12035876
SamplesHG02611
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606502
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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