A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666533



Internal ID9585952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50022693..50022836hg38UCSC Ensembl
chr13:50596829..50596972hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5587121, essv5482303, essv5589716, essv5446366, essv6260470, essv6392760, essv5995449, essv5743057, essv6574647, essv5716981, essv6580975, essv5967414, essv6358845, essv5660889, essv6249507, essv6037916, essv6451251, essv6042953, essv5813335, essv6559258, essv5979291, essv5823360, essv6145829, essv5639847, essv5542595, essv5546107, essv6444157, essv6001036, essv6552302, essv6480723, essv6192757, essv5512928, essv5599064, essv6141150, essv6171952, essv5463319, essv5670694, essv6502095, essv5610987, essv6074714, essv6167211, essv5633026, essv5867807, essv5666627, essv5730488, essv5954439, essv6139205, essv6268923, essv5709126, essv5764863, essv6583169, essv5856969, essv5485374, essv5887794, essv6146505, essv5554735, essv5937779, essv6190090, essv5543109, essv5734867, essv6414985, essv6305526, essv6527231, essv5916527, essv5802673, essv6053413, essv6016367, essv6492925, essv5959705, essv6109527, essv5938719, essv6448585, essv6238884, essv6504084, essv5838686, essv6177205, essv6282707, essv6054031, essv5634933, essv5927241, essv5944577, essv5877648, essv6441832, essv5493010, essv5610570, essv6416545, essv5860417, essv6078559, essv6082547, essv5565224, essv6497772, essv6446817, essv5672929, essv6216874, essv5736743, essv5433962, essv6234574, essv5398402, essv6232339, essv6500199, essv5591346, essv5798342, essv5414800, essv5572084, essv6297649, essv6417648, essv5801525, essv5426848, essv5913777, essv6096521, essv6362894, essv6512379, essv5780076, essv5533888, essv5869954, essv5619947, essv6511169, essv5691574, essv5700045, essv6175672, essv6563222, essv6569151, essv5941894, essv5791962, essv6523757, essv6420634, essv5639315, essv5722083, essv5978248, essv5964264, essv6564368, essv6116387, essv6236532, essv6575822, essv5540965, essv5977031, essv5790311, essv5882294, essv5619274, essv6253784, essv6587210
SamplesNA19137, NA19207, NA12154, NA18861, NA18520, NA18595, NA11930, NA20809, HG01353, NA18630, NA19819, NA18523, HG01083, NA18612, HG00274, NA20535, NA19311, HG00707, NA18511, NA19223, NA18603, NA19319, NA18948, NA19430, HG01197, NA18516, HG00117, HG01488, NA19920, NA20786, HG00139, NA18489, NA19379, HG00701, NA18507, HG01188, HG00334, NA07051, HG00280, HG00335, NA19257, NA19108, HG00177, NA18488, NA19780, NA20322, NA12287, NA18943, NA19147, HG01171, NA18868, HG00256, HG00154, HG01107, HG00339, NA12763, HG00346, NA19390, NA19917, NA18960, NA19471, NA19900, NA20504, NA19722, NA20801, NA18636, HG01124, NA18856, HG00315, HG00330, NA12761, HG00338, NA18959, NA19256, NA19835, NA11995, HG00133, NA12006, NA19055, NA19247, NA19360, NA19377, NA19380, HG00124, NA07346, NA12892, NA19372, NA19374, NA19384, HG00325, NA19102, HG00263, NA06986, NA18522, NA19238, NA18510, HG00260, NA19713, NA20540, NA18558, NA19664, HG01069, NA18504, HG00116, HG00277, NA20815, NA19720, HG00329, HG00534, NA18562, NA12891, HG01095, HG01334, NA19394, NA19403, NA12413, HG00138, NA19116, NA12878, HG00123, NA19225, NA11993, NA19160, HG01366, NA18571, NA19371, NA19916, HG01108, HG01125, NA19171, NA19240, NA19346, HG00275, HG00324, NA12717, NA18908, NA19448, NA20517, NA19092, HG00136, NA18519
Known GenesDLEU2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666533
Frequency
Sample Size1151
Observed Gain0
Observed Loss141
Observed Complex0
Frequencyn/a


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