A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633466



Internal ID7020275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:106433885..106436366hg38UCSC Ensembl
Innerchr13:106433914..106436338hg38UCSC Ensembl
Outerchr13:106433857..106436395hg38UCSC Ensembl
chr13:107086233..107088714hg19UCSC Ensembl
Innerchr13:107086262..107088686hg19UCSC Ensembl
Outerchr13:107086205..107088743hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg382482
hg192482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14890305, essv14890299, essv14890300, essv14890306, essv14890301, essv14890303, essv14890302, essv14890298, essv14890304
SamplesHG03130, HG02476, HG01704, HG03099, HG02943, NA19114, HG02282, HG02923, NA19328
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633466
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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