A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646364



Internal ID7033108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10521694..10566592hg38UCSC Ensembl
chr21:10945865..10990763hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3844899
hg1944899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv794e214
Supporting Variantsessv16242909, essv16242913, essv16242905, essv16242931, essv16242920, essv16242936, essv16242926, essv16242899, essv16242897, essv16242916, essv16242906, essv16242900, essv16242917, essv16242915, essv16242903, essv16242912, essv16242928, essv16242910, essv16242904, essv16242914, essv16242935, essv16242924, essv16242902, essv16242901, essv16242934, essv16242925, essv16242898, essv16242932, essv16242908, essv16242918, essv16242921, essv16242911, essv16242922, essv16242927, essv16242923, essv16242907, essv16242930, essv16242929, essv16242933, essv16242919
SamplesHG01412, HG00536, HG04222, HG01686, HG02271, HG01682, HG01064, NA20774, HG02130, HG01372, HG00451, HG00683, HG02067, HG01628, HG02502, HG02073, HG00464, HG02513, NA20809, HG03742, NA21124, HG03713, NA20881, HG01980, HG01131, HG03899, NA12763, HG02558, HG01935, HG03733, HG01783, HG01600, NA20528, HG03856, HG00171, NA20763, HG01869, NA18562, NA20772, HG03989
Known GenesTPTE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646364
Frequency
Sample Size2504
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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