A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12066394



Internal ID4549603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133800951..133819464hg38UCSC Ensembl
Innerchr5:133800951..133819464hg38UCSC Ensembl
Outerchr5:133800451..133819964hg38UCSC Ensembl
chr5:133136642..133155155hg19UCSC Ensembl
Innerchr5:133136642..133155155hg19UCSC Ensembl
Outerchr5:133136142..133155655hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3818514
hg1918514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606833
Supporting Variants
SamplesHG04047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12066394
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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