A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11854941



Internal ID2988395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31604419..31606569hg38UCSC Ensembl
Innerchr5:31604437..31606552hg38UCSC Ensembl
Outerchr5:31604402..31606587hg38UCSC Ensembl
chr5:31604526..31606676hg19UCSC Ensembl
Innerchr5:31604544..31606659hg19UCSC Ensembl
Outerchr5:31604509..31606694hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382151
hg192151
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604582
Supporting Variants
SamplesHG02642
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11854941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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