A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633442



Internal ID7020251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:105301098..105304219hg38UCSC Ensembl
chr13:105953449..105956570hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg383122
hg193122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv365e214
Supporting Variantsessv14888816, essv14888818, essv14888817, essv14888822, essv14888824, essv14888828, essv14888823, essv14888830, essv14888820, essv14888831, essv14888829, essv14888833, essv14888825, essv14888819, essv14888832, essv14888826, essv14888821, essv14888827
SamplesHG01485, HG01746, HG01098, HG01571, HG03645, NA07347, HG01510, HG00243, NA20775, HG01133, NA20521, NA20760, HG01705, HG02220, HG02304, HG01342, HG01395, HG01491
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633442
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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