A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134530



Internal ID5973393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173396748..173399053hg38UCSC Ensembl
Innerchr5:173396751..173399051hg38UCSC Ensembl
Outerchr5:173396746..173399056hg38UCSC Ensembl
chr5:172823751..172826056hg19UCSC Ensembl
Innerchr5:172823754..172826054hg19UCSC Ensembl
Outerchr5:172823749..172826059hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382306
hg192306
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607614
Supporting Variants
SamplesNA19383
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134530
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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