A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593411



Internal ID6980735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174642605..174643669hg38UCSC Ensembl
Innerchr2:174642606..174643668hg38UCSC Ensembl
Outerchr2:174642604..174643670hg38UCSC Ensembl
chr2:175507333..175508397hg19UCSC Ensembl
Innerchr2:175507334..175508396hg19UCSC Ensembl
Outerchr2:175507332..175508398hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381065
hg191065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10763725, essv10763894, essv10763758, essv10763628, essv10763847, essv10763674, essv10763828, essv10763898, essv10763829, essv10763726, essv10763759, essv10763881, essv10763855, essv10763742, essv10763746, essv10763798, essv10763665, essv10763701, essv10763719, essv10763663, essv10763802, essv10763840, essv10763778, essv10763839, essv10763838, essv10763678, essv10763816, essv10763734, essv10763776, essv10763659, essv10763866, essv10763764, essv10763815, essv10763784, essv10763643, essv10763779, essv10763888, essv10763772, essv10763744, essv10763727, essv10763879, essv10763651, essv10763796, essv10763824, essv10763644, essv10763753, essv10763851, essv10763771, essv10763896, essv10763713, essv10763812, essv10763794, essv10763768, essv10763681, essv10763800, essv10763862, essv10763834, essv10763631, essv10763884, essv10763755, essv10763880, essv10763827, essv10763869, essv10763687, essv10763760, essv10763833, essv10763675, essv10763658, essv10763666, essv10763723, essv10763780, essv10763848, essv10763650, essv10763745, essv10763721, essv10763645, essv10763841, essv10763859, essv10763693, essv10763858, essv10763835, essv10763669, essv10763852, essv10763718, essv10763875, essv10763677, essv10763817, essv10763652, essv10763629, essv10763647, essv10763733, essv10763700, essv10763809, essv10763711, essv10763813, essv10763653, essv10763788, essv10763655, essv10763775, essv10763902, essv10763657, essv10763671, essv10763886, essv10763831, essv10763716, essv10763703, essv10763877, essv10763849, essv10763811, essv10763761, essv10763637, essv10763695, essv10763895, essv10763696, essv10763825, essv10763676, essv10763698, essv10763664, essv10763762, essv10763717, essv10763836, essv10763748, essv10763863, essv10763662, essv10763646, essv10763830, essv10763769, essv10763860, essv10763649, essv10763638, essv10763729, essv10763765, essv10763660, essv10763722, essv10763635, essv10763790, essv10763633, essv10763686, essv10763791, essv10763735, essv10763627, essv10763856, essv10763786, essv10763807, essv10763773, essv10763874, essv10763797, essv10763783, essv10763757, essv10763857, essv10763870, essv10763889, essv10763837, essv10763680, essv10763861, essv10763749, essv10763707, essv10763901, essv10763731, essv10763694, essv10763893, essv10763897, essv10763706, essv10763876, essv10763900, essv10763846, essv10763826, essv10763785, essv10763777, essv10763682, essv10763709, essv10763782, essv10763656, essv10763683, essv10763799, essv10763853, essv10763741, essv10763636, essv10763752, essv10763810, essv10763821, essv10763867, essv10763805, essv10763756, essv10763668, essv10763845, essv10763679, essv10763792, essv10763630, essv10763808, essv10763667, essv10763781, essv10763710, essv10763789, essv10763738, essv10763747, essv10763730, essv10763708, essv10763661, essv10763689, essv10763724, essv10763832, essv10763737, essv10763712, essv10763882, essv10763806, essv10763774, essv10763684, essv10763670, essv10763634, essv10763648, essv10763699, essv10763793, essv10763715, essv10763704, essv10763740, essv10763728, essv10763691, essv10763763, essv10763804, essv10763873, essv10763720, essv10763714, essv10763899, essv10763641, essv10763850, essv10763654, essv10763625, essv10763640, essv10763751, essv10763705, essv10763883, essv10763864, essv10763754, essv10763872, essv10763891, essv10763692, essv10763688, essv10763767, essv10763801, essv10763865, essv10763822, essv10763878, essv10763868, essv10763766, essv10763739, essv10763814, essv10763871, essv10763818, essv10763639, essv10763770, essv10763685, essv10763787, essv10763626, essv10763903, essv10763702, essv10763732, essv10763750, essv10763697, essv10763819, essv10763736, essv10763820, essv10763803, essv10763672, essv10763844, essv10763892, essv10763795, essv10763887, essv10763690, essv10763673, essv10763854, essv10763642, essv10763890, essv10763885, essv10763842, essv10763823, essv10763843, essv10763743, essv10763632
SamplesNA19394, HG01986, NA19701, HG02944, HG01173, HG02496, HG03484, HG03121, HG03378, HG01885, HG03175, HG03111, NA19378, HG03517, HG03300, HG03449, HG02804, HG02323, HG03298, NA20294, HG03455, NA18878, NA18504, HG03295, HG03126, HG03515, HG01051, NA19920, HG03069, HG03478, NA19171, NA18519, HG03385, NA20320, NA19307, NA18923, HG02756, NA18916, NA19457, HG03224, NA20291, HG02143, NA18868, HG03045, NA19207, HG02642, NA19036, NA19239, HG01121, NA19921, HG02879, HG02943, HG02442, HG02820, HG01171, NA19403, HG01095, HG01882, HG01879, NA19043, NA20314, HG02144, HG02014, HG02878, HG01889, NA18907, NA19461, HG02429, HG02309, HG02881, HG01101, NA19099, HG03451, HG02256, HG01956, HG01107, HG02675, NA19017, NA19375, NA19309, HG02667, NA19256, NA19712, HG02010, HG02546, HG02308, HG03117, NA19331, NA18865, HG03259, HG02982, HG02941, NA19324, HG03473, HG02464, NA20281, NA19783, HG02558, HG03103, NA19328, NA18501, HG02971, HG03112, HG02095, HG01912, HG03977, HG03313, HG03063, HG03060, NA20289, NA18873, NA19116, NA19711, HG03077, HG03470, NA19900, NA19030, NA19430, HG02855, NA19316, HG02643, HG03303, HG03439, HG03514, HG02614, HG03559, NA19141, HG02610, NA18924, NA20877, NA19466, HG03548, HG03163, NA19332, NA20274, HG02337, HG02318, NA18881, NA19020, NA18877, HG03130, NA20321, HG03280, NA19819, HG03190, NA19393, HG03518, HG03297, NA20346, HG03172, NA19190, NA18870, NA19314, HG02895, HG03095, HG03074, NA19374, HG03464, NA19201, HG02811, HG03099, NA18489, HG03499, NA19448, HG02325, NA19119, NA19916, NA19131, HG03246, NA19138, NA18498, HG03479, NA19038, NA19404, HG01134, HG03460, NA19383, HG03556, HG03189, HG02315, HG03268, HG02573, NA19137, HG03195, NA19385, NA19471, HG02471, NA19159, HG02502, NA19189, HG03225, HG02946, NA18864, HG03058, NA19456, HG03055, HG03583, NA18908, HG02882, NA19200, HG03270, HG03169, HG02819, HG02977, HG02439, NA19247, HG03054, HG03160, HG02334, NA19347, NA19152, HG02511, HG02322, NA19982, HG02450, HG01989, HG02470, HG02976, HG03124, HG03294, HG02555, HG03311, NA19114, NA19118, NA19449, HG03202, NA18499, HG03397, NA19031, HG01241, NA19113, HG02884, NA19320, NA19338, HG01890, HG03354, NA19095, HG02586, NA19035, NA20296, HG02255, HG02455, HG03028, HG02282, NA18909, HG03240, NA19108, HG02799, HG02501, HG02983, HG01894, NA19435, NA19037, HG01958, HG02923, HG02837, NA19380, NA19439, HG03557, HG03108, HG03565, NA20348, NA19438, HG02970, NA19713, HG01085, HG02676, NA19096, HG02051, HG03162, NA19146, NA18488, HG01082, HG03072, HG02284, NA18522, HG02629, HG03118, HG03129
Known GenesWIPF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593411
Frequency
Sample Size2504
Observed Gain0
Observed Loss279
Observed Complex0
Frequencyn/a


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