A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134540



Internal ID6263672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173538869..173545283hg38UCSC Ensembl
Innerchr5:173538885..173545268hg38UCSC Ensembl
Outerchr5:173538854..173545299hg38UCSC Ensembl
chr5:172965872..172972286hg19UCSC Ensembl
Innerchr5:172965888..172972271hg19UCSC Ensembl
Outerchr5:172965857..172972302hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg386415
hg196415
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607617
Supporting Variants
SamplesNA19783
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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