A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632604



Internal ID7019414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68816450..68817535hg38UCSC Ensembl
Innerchr13:68816456..68817529hg38UCSC Ensembl
Outerchr13:68816444..68817541hg38UCSC Ensembl
chr13:69390582..69391667hg19UCSC Ensembl
Innerchr13:69390588..69391661hg19UCSC Ensembl
Outerchr13:69390576..69391673hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14784245, essv14784222, essv14784231, essv14784219, essv14784226, essv14784261, essv14784232, essv14784223, essv14784247, essv14784248, essv14784242, essv14784235, essv14784246, essv14784244, essv14784262, essv14784236, essv14784259, essv14784216, essv14784253, essv14784255, essv14784249, essv14784239, essv14784230, essv14784221, essv14784225, essv14784254, essv14784217, essv14784220, essv14784243, essv14784240, essv14784234, essv14784218, essv14784227, essv14784233, essv14784237, essv14784250, essv14784251, essv14784238, essv14784256, essv14784257, essv14784229, essv14784260, essv14784241, essv14784215, essv14784252, essv14784228, essv14784258, essv14784224
SamplesHG02614, HG02339, HG02944, NA19397, NA18924, NA18508, HG02852, HG03455, NA19393, HG03100, NA18504, NA19377, HG03139, HG02589, HG03572, HG03385, HG02549, HG01242, NA19385, NA19026, HG03058, NA19908, NA19437, NA18915, HG02968, HG02555, HG03472, HG01073, NA19118, HG02445, HG01182, NA19099, HG02635, HG02484, HG02330, NA19206, NA19321, NA19256, NA19473, HG02317, NA20357, HG03432, HG02971, HG01055, NA18873, NA19900, HG03271, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632604
Frequency
Sample Size2504
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer