A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604809



Internal ID6991837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40113828..40123479hg38UCSC Ensembl
Innerchr5:40113877..40123430hg38UCSC Ensembl
Outerchr5:40113779..40123528hg38UCSC Ensembl
chr5:40113930..40123581hg19UCSC Ensembl
Innerchr5:40113979..40123532hg19UCSC Ensembl
Outerchr5:40113881..40123630hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg389652
hg199652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11873734, essv11873733, essv11873732, essv11873731, essv11873735
SamplesHG04106, HG03829, HG04093, HG03615, HG03741
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604809
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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