A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647250



Internal ID7033991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18924644..19011486hg38UCSC Ensembl
chr22:18912157..18998999hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3886843
hg1986843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16362096, essv16362088, essv16362106, essv16362124, essv16362073, essv16362107, essv16362109, essv16362110, essv16362086, essv16362125, essv16362108, essv16362084, essv16362116, essv16362115, essv16362089, essv16362071, essv16362067, essv16362123, essv16362098, essv16362120, essv16362082, essv16362103, essv16362080, essv16362091, essv16362087, essv16362122, essv16362066, essv16362065, essv16362074, essv16362078, essv16362081, essv16362092, essv16362099, essv16362126, essv16362075, essv16362079, essv16362094, essv16362070, essv16362072, essv16362117, essv16362077, essv16362069, essv16362097, essv16362102, essv16362104, essv16362111, essv16362101, essv16362068, essv16362100, essv16362085, essv16362105, essv16362112, essv16362118, essv16362119, essv16362095, essv16362093, essv16362064, essv16362090, essv16362121, essv16362063, essv16362083, essv16362113, essv16362114, essv16362076
SamplesHG03096, HG03484, NA20891, NA12286, NA20508, NA19664, NA11829, HG03731, HG02433, HG02891, NA20294, NA20864, NA18606, HG03645, HG03706, NA19762, NA18923, HG03937, NA20900, HG02374, HG00851, HG04070, HG03594, HG02489, NA20539, NA20278, NA19235, HG04185, HG02545, HG03120, HG00176, HG01200, HG01797, NA20519, NA20126, HG02968, HG00551, NA20525, HG03472, NA19114, HG03660, HG01921, HG00157, HG01705, HG02256, NA19095, NA18531, HG01812, HG04186, HG01915, HG03488, NA18629, HG01974, HG02646, HG02462, NA20528, HG02051, HG01111, NA12006, NA20827, HG03118, HG02006, HG01786, NA20772
Known GenesDGCR5, PRODH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647250
Frequency
Sample Size2504
Observed Gain64
Observed Loss0
Observed Complex0
Frequencyn/a


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