A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670303



Internal ID9936408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186693362..186693690hg38UCSC Ensembl
chr4:187614516..187614844hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6481543, essv6483337, essv5619582, essv6172486, essv5936135, essv5749767, essv6265003, essv5885520, essv5590944, essv6137223, essv6322183, essv6386861, essv5610005, essv5606618, essv6287640, essv5516567, essv6382930, essv6112061, essv5811481, essv6088686, essv6582528, essv5995218, essv5762073, essv6087178, essv5641992, essv5988481, essv6105872, essv5512227, essv6338110, essv6235885, essv6098506, essv5744941, essv6009728, essv5536439, essv5978283, essv6396596, essv5436686, essv5823815, essv5892334, essv5601209, essv5959862, essv6155647, essv5979521, essv5808958, essv5470144, essv5413139, essv6197730, essv5496288, essv5693139, essv5450020, essv5648389, essv6156042, essv6360324, essv6212273, essv6109223, essv5420666, essv6421544, essv5973285, essv5569467, essv6314672, essv5570052, essv5586832, essv5886988, essv6437458, essv6072612, essv5922304, essv6529905, essv5842940, essv6126330, essv5799289, essv6241910, essv6015475, essv6424061, essv6080218, essv5814683, essv6535039, essv5957386, essv5492411, essv6527220, essv5577668, essv5705861, essv6155664, essv5910726, essv6305741, essv6516097, essv5822772, essv6465150, essv5620769, essv6438019, essv6206631, essv5682483, essv5532564, essv5494193, essv6319905, essv6516417, essv6531652, essv5416518, essv6323003, essv5950862, essv5405897, essv5698712, essv5993986, essv5544239, essv6533494, essv5624383, essv5689485, essv5479050, essv6066513, essv5743070, essv5451443, essv5444983, essv6527511, essv5571226, essv5861066, essv5575799, essv6386049, essv6347919, essv6082720, essv6186663, essv6303049, essv6039428, essv6499286, essv6081598, essv6374659, essv5772053, essv6245417, essv5615934, essv6147038, essv5754841, essv5425894, essv5969243, essv5867148, essv6572298, essv5682248, essv6523313, essv5634928, essv6460889, essv6091297, essv5651363, essv6253026, essv5637362, essv6294817, essv6231837, essv6174550, essv5817363, essv5571599, essv6189734, essv6232883, essv5559806, essv6592960, essv5878267, essv6585794, essv5927301, essv5415757, essv5835450, essv5423728, essv6222886, essv5477227, essv6270519, essv6392162, essv6218470, essv6243632, essv5424999, essv5406863, essv6101713, essv6016919, essv5749627, essv5653812, essv6159227, essv5667584, essv6088335, essv5462874, essv5469055, essv5521015, essv6008785, essv6108877, essv5634047, essv6564575, essv6118351, essv5725129, essv5763206, essv5923391, essv5467169, essv6072837, essv5973535, essv5857890, essv5405857, essv5784942, essv5630206, essv5999905, essv6234398, essv6461205, essv5902886, essv6432421, essv5696040, essv5436434, essv5998464, essv5796913, essv5539697, essv5817201, essv5481046, essv6183049, essv6066571, essv6141128, essv5724123, essv5776950, essv5581791, essv5555997, essv6412331, essv6312810, essv6271407, essv5662798, essv5575893, essv5830802, essv5525115, essv5562527, essv5494335, essv6559586, essv6304706, essv6289164, essv5850421, essv5661006, essv5830891, essv5607636, essv6120194, essv6079384, essv5590597, essv6176569, essv5971205, essv5723306, essv5851897, essv6328001, essv5625384, essv6451841, essv6386348, essv5632833, essv6336444, essv5475231, essv5563852, essv5735077, essv6552730, essv5625830, essv6142430, essv6351095, essv6063437, essv5954610, essv6435527, essv5837494, essv6065792, essv5511281, essv5743171, essv5871410, essv5684740, essv5583442, essv5652390, essv6114842, essv6014688, essv6284180, essv6182125, essv5879880, essv5742413, essv6269223, essv6286190, essv5903262, essv5408403, essv5621521, essv5647000
SamplesNA18502, NA19701, HG00542, NA12717, NA12842, NA19703, NA19066, NA18508, NA19399, NA18565, NA12414, NA12843, NA11920, NA11931, HG01066, NA12751, NA19355, HG01051, NA20806, NA18602, HG00693, HG00337, HG00271, NA18563, HG00641, NA19373, NA18519, HG00272, NA19315, NA20756, NA18567, NA18558, NA18960, NA18916, NA20768, NA19457, NA19904, HG00537, NA19079, NA18949, HG00512, NA20539, NA18868, NA19238, HG00705, NA19239, NA18557, HG01133, NA20342, NA19985, NA18867, NA20515, NA18539, HG00137, NA12777, NA18951, HG00443, HG00268, NA18933, HG00657, NA19663, HG00556, HG00583, HG00263, HG00275, NA18579, NA18871, NA18572, HG01149, NA18534, NA19064, NA18548, NA18907, HG01047, NA19654, NA18573, NA11919, HG00690, HG00531, HG00479, NA12829, HG00331, HG00684, NA18912, HG01101, NA18553, HG00146, NA19682, HG00463, NA19395, NA18570, NA19625, NA18858, NA12546, HG01107, NA18541, NA12043, HG01148, NA19375, NA19003, HG00611, NA18632, NA18533, NA19256, NA19147, NA19712, NA19072, HG00580, NA19010, HG00237, NA19311, NA20544, HG00116, NA18943, HG00418, HG01489, HG00620, HG00513, NA19093, HG00112, NA19711, NA19430, NA18989, NA19129, NA19316, HG00628, NA12154, NA19065, NA18612, NA19429, NA19346, NA19431, HG00593, HG00403, HG00114, HG01441, HG00592, NA19055, HG00536, HG00249, NA18592, HG00524, NA19914, NA19332, NA18980, NA19704, HG01188, NA18599, NA18603, HG00367, NA19092, NA18486, HG01465, NA18545, NA19819, NA19393, NA18596, HG00566, NA20808, HG00177, NA19190, NA18526, HG01140, NA19396, NA19660, NA18944, HG01070, HG00251, HG00501, NA19382, NA18489, HG00702, HG00173, NA18982, NA18635, NA19198, NA18619, NA18942, NA12283, NA19138, NA18498, NA18611, HG01134, HG00277, NA19651, HG01067, HG00683, NA18874, NA19917, NA18560, NA19385, NA18986, HG00427, NA19901, NA19725, NA12828, NA18638, HG00739, NA19007, NA11831, HG00543, HG00188, NA19210, HG01187, HG00328, NA12003, HG00428, NA19347, NA19236, HG00436, NA19982, HG00533, HG00500, NA19788, HG00708, HG01094, HG01073, HG01197, NA18499, NA20538, NA12249, HG00613, NA18853, NA19257, NA18576, NA19685, HG00476, NA20522, NA12716, NA18909, HG00285, NA19108, NA18961, HG00357, NA19435, NA19240, NA07051, HG00607, NA19467, HG00319, HG01108, NA07037, HG00269, HG00125, HG00672, NA19438, NA20582, NA19060, NA12749, HG00656, HG01055, HG00174, NA20807, NA18552, HG01377, HG00472, NA18505, NA19004, NA18488, NA20322, NA18511, NA07000, NA18622, HG00437, NA18562, NA18965, NA20509
Known GenesFAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670303
Frequency
Sample Size1151
Observed Gain0
Observed Loss267
Observed Complex0
Frequencyn/a


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