A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664028



Internal ID9930133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127810847..127811279hg38UCSC Ensembl
chr3:127529690..127530122hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5565609, essv5504421, essv6351614, essv6346261, essv5742290, essv5632738, essv5505383, essv6449058, essv5850778, essv6186566, essv6186487, essv5725514, essv6155217, essv5970802, essv6280115, essv5602875, essv5442206, essv5719844, essv5927638, essv6081281, essv5889113, essv6227283, essv5999261, essv6525208, essv6453910, essv5708306, essv6011086, essv6556540, essv5664099, essv6351257, essv6583266, essv5819453, essv6532087, essv6481940, essv6563377, essv6384164, essv5843641, essv6055523, essv6428526, essv6446163, essv6013797, essv5474649, essv5447214, essv6105197, essv6527254, essv6401936, essv6107697, essv5484286, essv5440935, essv5542342, essv5525936, essv6488364, essv5474930, essv5605955, essv6489130, essv5544561, essv5953246, essv5654339, essv5968285, essv5438735, essv6317457, essv6411851, essv6460273, essv5919118, essv6380252, essv6497643, essv6175419
SamplesNA19701, NA18924, HG01462, NA18861, NA19399, NA19332, NA19359, NA19819, NA18504, NA19377, NA19443, NA19190, NA18870, NA19920, NA12155, NA19446, NA19381, NA19171, NA19382, NA18489, NA19448, NA19197, NA18498, NA19404, NA19917, HG01072, NA19207, NA19385, NA19172, NA18520, NA20342, NA19209, NA19985, NA19921, NA19200, NA19437, NA19403, NA19347, NA19152, NA19236, NA19461, NA19449, NA18912, NA18853, NA20282, NA19099, NA19338, NA19257, NA19625, NA19436, NA19834, NA19147, NA19435, HG00638, NA19439, NA20803, NA19248, NA19468, NA19474, NA18873, NA19213, NA19900, NA18505, NA19129, NA19312, NA19463, NA19429
Known GenesMGLL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664028
Frequency
Sample Size1151
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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