A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605079



Internal ID6992107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53919549..53921036hg38UCSC Ensembl
Innerchr5:53919549..53921036hg38UCSC Ensembl
Outerchr5:53919403..53921226hg38UCSC Ensembl
chr5:53215379..53216866hg19UCSC Ensembl
Innerchr5:53215379..53216866hg19UCSC Ensembl
Outerchr5:53215233..53217056hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381488
hg191488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11903918, essv11903922, essv11903921, essv11903920, essv11903919
SamplesHG03926, NA20881, HG04093, HG02660, HG03886
Known GenesARL15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605079
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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