A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632147



Internal ID7018957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:55078482..55084333hg38UCSC Ensembl
chr13:55652617..55658468hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg385852
hg195852
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv333e214
Supporting Variantsessv14735002, essv14735005, essv14735003, essv14735004
SamplesNA18502, NA19057, HG02979, HG03313
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632147
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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