A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658383



Internal ID9924488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18052988..18053148hg38UCSC Ensembl
chr22:18535754..18535914hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5633053, essv6479834, essv6485238, essv6529144, essv6087895, essv5498505, essv5887138, essv5924213, essv6235425, essv5828780, essv5406289, essv6233628, essv5960199, essv5452002, essv5415163, essv6193187, essv5798246, essv6005703, essv6535628, essv5622813, essv5788844, essv5603846, essv5500523, essv5505303, essv5781040, essv6507170, essv5422113, essv5753432, essv5697479, essv6570975, essv6458282, essv6452774, essv5960935, essv6228940, essv6563946, essv6107062, essv6295742, essv6022260, essv5522776, essv5805006, essv5571153, essv6037073, essv6206104, essv5406162, essv6017529, essv5466315, essv6360644, essv6075138, essv6002996, essv5426370, essv5868157, essv6088631, essv5843792, essv6000215, essv5707870, essv6225238, essv6285864, essv5769062, essv5865986, essv6044450, essv5662377, essv6201774, essv6448468, essv5631272, essv6597186, essv6242612, essv6532590, essv5902431, essv6117734
SamplesHG01060, HG01173, HG00524, NA18565, HG01374, HG00699, NA19355, NA18596, NA18530, NA20507, NA18633, NA18602, HG00327, NA19374, HG00138, HG01070, HG01351, HG00702, HG00448, NA18547, NA19138, HG00334, HG00512, HG00277, HG01170, NA18977, HG00534, HG00422, HG00427, NA18557, HG01048, HG00530, HG00419, HG01353, HG00137, HG00428, HG00657, HG00475, HG00584, HG00500, NA18534, HG00619, HG00635, HG00273, HG00651, HG00684, HG01383, HG00704, HG00463, NA18632, HG00336, HG00285, HG00353, HG00580, HG00375, HG00136, NA07051, HG00607, NA19360, HG00421, HG00329, HG00310, HG00698, HG01082, HG01125, NA18623, NA07000, HG01437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658383
Frequency
Sample Size1151
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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