A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv831e214



Internal ID22756725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25323914..25521686hg38UCSC Ensembl
chr22:25719881..25917653hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38197773
hg19197773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3647464, esv3647463, esv3647462
SamplesHG04096, HG02072, HG02385, HG03052, HG01855, HG04194, HG02029, NA18599, HG02419, HG02836, HG02600, HG01802, HG03772, HG03895, HG02888, HG02688, HG01809, NA18602, HG01873, HG03603, HG03943, HG03452, HG03808, HG03490, HG00689, NA19307, NA20795, HG02620, NA19916, NA18558, HG03246, NA20768, NA19138, HG04070, HG01848, HG03917, NA12761, HG01893, NA20539, HG03520, HG00120, HG00379, HG01281, HG03746, HG03777, HG04238, NA20889, NA18864, HG03585, NA18973, HG00419, HG04075, NA19027, HG02716, HG02009, HG00149, HG03785, HG01867, HG02793, NA18525, HG03787, HG02075, HG03907, HG02582, HG03760, HG02678, NA18956, HG04107, NA20810, HG01882, HG04162, HG03428, HG03900, HG01498, HG04019, HG02968, HG02878, HG02789, HG03829, HG03382, NA20859, HG03202, NA11894, HG01241, HG03446, HG03643, HG03625, NA19099, HG03854, HG03914, NA06985, HG02586, HG02219, HG04093, NA19017, HG03720, NA19401, NA19729, HG00382, NA18632, HG02282, HG04006, HG04026, HG03367, HG04239, NA20351, HG02274, HG02139, NA07037, HG02814, HG02181, NA20906, HG04023, HG04140, HG03442, NA21102, HG02079, HG01254, NA21133, NA20510, HG04171, HG03538, NA19030, HG03376, HG02805, HG03886
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv831e214
Frequency
Sample Size2504
Observed Gain126
Observed Loss0
Observed Complex0
Frequencyn/a


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