A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022026



Internal ID5057835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112102848..112148056hg38UCSC Ensembl
Innerchr5:112102848..112148056hg38UCSC Ensembl
Outerchr5:112102348..112148556hg38UCSC Ensembl
chr5:111438545..111483753hg19UCSC Ensembl
Innerchr5:111438545..111483753hg19UCSC Ensembl
Outerchr5:111438045..111484253hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3845209
hg1945209
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606289
Supporting Variants
SamplesNA18534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022026
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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