A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631913



Internal ID7018722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43043823..43047523hg38UCSC Ensembl
Innerchr13:43043824..43047523hg38UCSC Ensembl
Outerchr13:43043823..43047524hg38UCSC Ensembl
chr13:43617959..43621659hg19UCSC Ensembl
Innerchr13:43617960..43621659hg19UCSC Ensembl
Outerchr13:43617959..43621660hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383701
hg193701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710041, essv14710057, essv14710052, essv14710058, essv14710049, essv14710055, essv14710050, essv14710056, essv14710042, essv14710054, essv14710048, essv14710044, essv14710053, essv14710045, essv14710046, essv14710043, essv14710047, essv14710051
SamplesHG02122, HG02061, HG02389, HG02082, HG02190, HG02047, HG00653, HG00475, NA19064, HG00531, NA18553, HG00864, NA18634, HG00445, NA18945, HG01858, NA18636, HG02351
Known GenesDNAJC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631913
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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