A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5498406



Internal ID9304509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55084508..55091170hg38UCSC Ensembl
chr5:54380336..54386998hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386663
hg196663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678951
Supporting Variants
SamplesNA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5498406
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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