A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11818009



Internal ID5070971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13587322..13590079hg38UCSC Ensembl
Innerchr5:13587322..13590079hg38UCSC Ensembl
Outerchr5:13587186..13590151hg38UCSC Ensembl
chr5:13587431..13590188hg19UCSC Ensembl
Innerchr5:13587431..13590188hg19UCSC Ensembl
Outerchr5:13587295..13590260hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg382758
hg192758
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604071
Supporting Variants
SamplesNA18539
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11818009
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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