A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11904016



Internal ID1047982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54791501..54815286hg38UCSC Ensembl
chr5:54087329..54111114hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3823786
hg1923786
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605090
Supporting Variants
SamplesHG00671
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11904016
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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