A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606652



Internal ID6993587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:125290785..125408035hg38UCSC Ensembl
chr5:124626478..124743728hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38117251
hg19117251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12050431
SamplesHG01495
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606652
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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