A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664663



Internal ID9930768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81514046..81514167hg38UCSC Ensembl
chr1:81979731..81979852hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6489946, essv5836968, essv5615190, essv5843171, essv6219811, essv6321381, essv5954264, essv6431033, essv5450934, essv5802900, essv6433970, essv5641835, essv6543982, essv6203503, essv5486663, essv5417541, essv6526000, essv5825716, essv5431615, essv6354802, essv6324878, essv5698280, essv5754577, essv6596618, essv5483088, essv5462660, essv5523366, essv6581467, essv6534274, essv6428016, essv5904629, essv6153203, essv6595931, essv6412115, essv5915109, essv5889638, essv6296097, essv6456679, essv5532792, essv6520400, essv6094852, essv6423124, essv6184467, essv5836006, essv5733951, essv6186715, essv6064958, essv5602402, essv6230768, essv6190433, essv5756559, essv5664299, essv5528522, essv6411749, essv6568746, essv5417773, essv5663392, essv5474730, essv6425064, essv5475256, essv5828621, essv6128932, essv5979199, essv6270425, essv5914021, essv6423871, essv5558777, essv5516222, essv6551491, essv6452014, essv5402960, essv6221650, essv6312740, essv6121902, essv6015203, essv6174241, essv6037455, essv5597801, essv6575448, essv5687470, essv6085396, essv6434415, essv6518409, essv6188325, essv5843774, essv5440851, essv6369500, essv5934576, essv6011995, essv6559911, essv5748510, essv6340077, essv5410836, essv6070695, essv6527210, essv5890297, essv5968540, essv5757468, essv6591910, essv6262026, essv5603789, essv5963527, essv5467047, essv6201988, essv5969848, essv5600403, essv5485654, essv5950249, essv5941080, essv6575533, essv6374230, essv6268717, essv6003187, essv5693389, essv5533152, essv5423153, essv5744812, essv5626313, essv6414194, essv5950496, essv5416457, essv5960027, essv5832257, essv5699425, essv5610657, essv5808843, essv5967726, essv5596030, essv6370840, essv6115656, essv5985659, essv5831848, essv5914409, essv5919666, essv5969934, essv5767931, essv6501940, essv6192245, essv5856213, essv6504778, essv6017419, essv5428617, essv6159017, essv6047047, essv5628542, essv5907341, essv6228184, essv6005873, essv5788127, essv5452427, essv6344277, essv6051669, essv5923843, essv5735447, essv6447947, essv5850317, essv6020084, essv6145185, essv5525930, essv6458448, essv5765329, essv6258678, essv6312672, essv6152580, essv5549404, essv6161953, essv6263914, essv5871245, essv6552905, essv5753071, essv6488038, essv6466492, essv6443160, essv5624577, essv6301539, essv5638224, essv6423586, essv6275401, essv5936574, essv5403586, essv5591293, essv6085190, essv6365850, essv6292946, essv6130894, essv5985252, essv6446438, essv6140915, essv5826591, essv5804172, essv6230390, essv6322634, essv5884128
SamplesNA19701, HG00650, HG00442, NA20529, NA18621, NA12286, NA11995, NA19204, NA18592, NA19399, HG01052, NA18561, NA19704, NA18507, NA18599, HG00315, NA18603, NA19359, NA19092, NA18486, NA19355, NA18545, NA18504, NA18959, HG01461, NA19190, NA19098, NA18870, NA07357, NA18988, NA18627, HG00271, NA19107, NA19068, NA19381, NA18940, NA18519, HG01070, HG00589, HG00272, HG00251, NA19382, NA19448, NA20769, NA12348, NA18960, NA18942, NA18582, NA19457, HG01083, NA19054, HG01365, NA19782, NA19384, HG00537, NA19130, NA18949, HG00590, NA20541, NA18611, HG01134, HG00139, HG00683, NA18874, NA06984, NA19719, NA19137, NA19371, NA19238, NA19172, HG00422, HG00705, NA19189, NA18990, NA18520, NA19239, NA18975, HG00530, NA18539, NA19451, NA18638, HG00464, NA19007, NA18951, NA18613, HG00731, HG00443, NA18538, HG00282, NA19707, NA19056, HG00557, HG00328, NA12342, NA19462, NA19347, HG00732, NA18956, NA19391, NA18516, HG00556, HG00320, HG00583, NA19081, HG00500, NA18572, NA18948, NA18630, NA19776, NA18907, HG01390, HG01102, HG00324, NA19461, NA19114, NA19655, HG00690, HG00531, HG00479, HG00684, NA18856, NA12249, NA18912, NA18532, HG01101, NA18853, NA19099, NA18555, NA12144, NA18523, NA19469, NA19160, HG00246, NA18570, NA18858, NA19012, NA18546, NA12043, NA18608, NA19685, NA19401, NA18632, NA19440, NA19390, NA18909, NA19834, NA19108, NA18961, NA19147, NA18559, NA18517, HG00565, NA19240, NA19144, NA12046, NA19334, HG00473, NA19428, NA18943, HG00269, HG00125, NA19398, NA18501, HG00707, HG00614, HG00578, NA18971, HG01491, HG00421, NA18987, NA12749, NA19468, NA19474, NA19102, NA18873, NA19116, NA19780, NA19711, NA20528, NA19900, NA18983, NA18989, NA19004, NA18968, NA18522, NA18612, NA19429, NA19346, NA18487, NA19153, HG00581, NA18965, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664663
Frequency
Sample Size1151
Observed Gain0
Observed Loss193
Observed Complex0
Frequencyn/a


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