A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605033



Internal ID6992061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50883562..50886182hg38UCSC Ensembl
Innerchr5:50883567..50886178hg38UCSC Ensembl
Outerchr5:50883558..50886187hg38UCSC Ensembl
chr5:50179396..50182016hg19UCSC Ensembl
Innerchr5:50179401..50182012hg19UCSC Ensembl
Outerchr5:50179392..50182021hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg382621
hg192621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11900099
SamplesHG02724
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605033
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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