A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606649



Internal ID6993584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125080897..125289297hg38UCSC Ensembl
chr5:124416590..124624990hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38208401
hg19208401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12047928
SamplesHG01495
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606649
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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