A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632930



Internal ID7019741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:83908149..83913650hg38UCSC Ensembl
Innerchr13:83908649..83913150hg38UCSC Ensembl
Outerchr13:83907149..83914650hg38UCSC Ensembl
chr13:84482284..84487785hg19UCSC Ensembl
Innerchr13:84482784..84487285hg19UCSC Ensembl
Outerchr13:84481284..84488785hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14822381, essv14822369, essv14822371, essv14822372, essv14822367, essv14822378, essv14822376, essv14822370, essv14822374, essv14822379, essv14822380, essv14822363, essv14822365, essv14822382, essv14822375, essv14822362, essv14822364, essv14822366, essv14822373, essv14822377, essv14822368, essv14822361
SamplesHG02574, HG02890, HG02433, NA20294, NA12400, NA18988, NA19068, NA19448, NA19457, NA19471, NA18986, HG02882, NA19921, NA19403, NA19000, NA19449, HG01990, NA18953, HG03539, HG02107, NA18989, NA19316
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632930
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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