A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672365



Internal ID9938470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:9730207..9730377hg38UCSC Ensembl
chrX:9698247..9698417hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5761572, essv6180800, essv6203753, essv5627149, essv6432539, essv6339384, essv5991327, essv5643798, essv6588135, essv6144300, essv5526513, essv5408870, essv6517162, essv6372052, essv5887277, essv5464722, essv5748611, essv6264824, essv5468634, essv6437213, essv5937508, essv5943666, essv6039665, essv5742004, essv6460746, essv5689264, essv5777057, essv5912323, essv5809430, essv6142335, essv5449756, essv5855769, essv5531280, essv6017910, essv5519260, essv6274247, essv6047938, essv5923462, essv6597640, essv6342084, essv5563753, essv6224389, essv6051843, essv6280416, essv6471095, essv5972786, essv5574684, essv6537000, essv5496868, essv5475883, essv5850411, essv6377804, essv6265722, essv5916253, essv6498251, essv5545640, essv6237750, essv5991759, essv5615765, essv5558276, essv6278717, essv5640706, essv5840965, essv5840813, essv5448850, essv6250827, essv5955634, essv6133824, essv5416142, essv5610024, essv6350488, essv6482948, essv6188602, essv5822062, essv5954173, essv5803015, essv6185948, essv6063552, essv5730403, essv5853691, essv6165300, essv6318806, essv5667184, essv6100547, essv6576568, essv6169356, essv5878480, essv5642399, essv5665761, essv6292840, essv5818734, essv6345970, essv5804797, essv5931885, essv5838618, essv5775184, essv5628734, essv5785175, essv5585618, essv5977463, essv5582921, essv5669979, essv6225184, essv6425516, essv5508624, essv5765254, essv5785111, essv5452089, essv6400550, essv5487895, essv6081480, essv5725109, essv6105164, essv5794932, essv5565881, essv6244800, essv6086482, essv6323608, essv6243455, essv6119677, essv5580678, essv6573199, essv6184339, essv6272741, essv6553013, essv6157993, essv5712932, essv6073205, essv5699421, essv6321720, essv6413410, essv6098918, essv6588551, essv6219589, essv6096368, essv6274826, essv5536536, essv6250364, essv6214794, essv6292005, essv6510059, essv6165000, essv6303755, essv6488042, essv6320867, essv6000394, essv5648992, essv5654078, essv5516101, essv5893612, essv5794251, essv5401741, essv6207946, essv5484507, essv5653380, essv6144498, essv5520875, essv5452472, essv6570524, essv6132869, essv5651481, essv6406397, essv6296116, essv6500372, essv5733729, essv5766076, essv5433608, essv5734219, essv6473737, essv5595415, essv6549557, essv6080816, essv5566332, essv6475169, essv6439805, essv6268338, essv5700848, essv6053409, essv5575668, essv6021853, essv5962380, essv5659509, essv6375277, essv6529272, essv6365383, essv6134862, essv5804569, essv5969459, essv5580029, essv6021374, essv6385116, essv6347180, essv6364513, essv5854435, essv5819807, essv5777892, essv6388659, essv5595915, essv6289631, essv6110538, essv5935963, essv6568336, essv6100225, essv6420809, essv6351385, essv6595262, essv5792343, essv6078044, essv6448083, essv5724192, essv5965014, essv5850916, essv5647471, essv5581261, essv5425506, essv5681357, essv6175689, essv6220608, essv6431156, essv5659835, essv5873145, essv6034022, essv6404845, essv5882979, essv6281986, essv5999606, essv5588294, essv5562201, essv6423107, essv5451626, essv5939498, essv6532299, essv6331093, essv6552911, essv5919638, essv6557131, essv6151193, essv5710365, essv6254828, essv5560639, essv6439344, essv6288780, essv5554247, essv5501002, essv6119628, essv5701050, essv5599827, essv5912795, essv5496042, essv5437723, essv5884611, essv6079520, essv5821090, essv6260839, essv5488609, essv5743704, essv5681178, essv5701320, essv6408280, essv6359192, essv5796493, essv5610363, essv6101943, essv6106936, essv5513202, essv6467373, essv6292871, essv6119701, essv6087567, essv6412637, essv6370793, essv5593866, essv5605627, essv5969207, essv6241387, essv6380713, essv5623242, essv5526259, essv6043669, essv5706548, essv5704430, essv5982680, essv5433223, essv6224695, essv5649568, essv6432810, essv5802708, essv5635207, essv6552047, essv6298970, essv5972040, essv6060290, essv5498273, essv5871524, essv5655173, essv5514288, essv6432207, essv6535775, essv5523618, essv6099118, essv5834286, essv6033413, essv5783121, essv5418976, essv5805557, essv5657265, essv5471585, essv5426381, essv5404346, essv5402664, essv5419732, essv6069731, essv6425135, essv5512065, essv5471552, essv5927439, essv6172551, essv6358170, essv6204339, essv5538837, essv5615574, essv5578226, essv6503698, essv6293274, essv6407045, essv5935909, essv5427175, essv5447963
SamplesNA18502, NA19701, NA20761, HG00542, HG01462, HG00608, NA12286, NA20508, HG00671, NA19204, NA18508, NA18565, NA20514, NA11931, HG01066, HG00315, NA19359, HG00153, NA19355, NA18504, NA20332, HG00115, HG00449, HG00654, NA19443, HG01051, NA20771, NA18510, NA19067, NA18602, HG00693, NA19107, HG00663, NA19446, HG00641, HG00138, HG01350, NA19379, NA18940, HG00589, NA19315, HG01351, HG01177, NA20756, NA18558, NA18547, HG01492, NA18960, NA18916, NA20768, NA18571, HG01083, HG01365, HG00185, HG00537, NA20291, NA19130, NA18949, HG00512, HG01069, HG01080, HG00325, NA19238, HG00534, NA19235, NA19207, NA19172, HG00705, NA18990, NA18557, NA18985, NA20757, NA19985, NA18539, NA20753, NA12777, HG00154, NA18951, NA18605, HG00731, HG00443, HG00266, HG01171, NA19403, HG00557, NA12878, NA18933, HG01095, NA19663, HG00583, HG00344, HG00275, NA18534, NA18981, NA19064, NA18907, NA18537, NA19654, HG01102, HG00324, HG00651, HG00250, HG00690, HG00531, HG00479, NA18532, HG01101, NA19059, NA19761, NA18555, NA18963, HG00704, NA18523, NA19469, HG00246, NA19395, NA18570, HG01107, NA18541, NA18974, NA20799, NA19729, NA19390, NA19256, NA19147, NA18517, NA18564, NA18628, HG00580, NA19010, HG01174, NA20790, HG01375, HG00473, NA19470, NA19428, HG01137, HG00116, NA18943, NA19360, NA19783, NA12763, HG00662, NA18615, NA18610, HG00620, HG00339, HG00614, NA06994, HG00513, HG00478, NA18631, NA19093, NA18609, HG00310, NA19102, NA18873, NA18624, NA12006, NA19463, NA18623, NA12154, NA19429, NA18577, NA18620, HG01441, NA11830, HG00592, HG01356, NA20543, HG00536, NA11829, NA18592, HG01052, NA19704, NA18507, HG01188, HG01374, NA18603, NA19092, NA18486, NA18545, NA12004, NA18596, NA18625, NA18606, HG00179, NA19190, NA19098, NA18870, NA18526, NA07357, HG01140, NA18967, NA19381, NA18944, NA18550, HG01366, HG01070, NA19382, NA18489, NA19728, NA18595, HG00702, HG00689, NA19723, NA20317, NA12891, NA18942, HG00736, NA19197, HG01354, NA20540, NA19088, NA12287, NA19138, NA19054, NA20513, NA19782, NA18964, HG00590, NA20541, NA18611, NA19404, NA12761, HG01134, HG01067, HG00236, NA18977, NA19137, NA19371, NA18560, HG01176, NA19159, HG00427, NA19189, NA18520, NA18973, HG00530, HG00419, NA19451, NA18638, HG00464, NA10847, HG00543, HG00313, HG01183, HG00149, NA19247, NA19210, HG00629, NA19657, HG01187, NA19077, HG00428, NA20809, HG00653, NA18956, NA19391, NA18516, HG00436, NA19982, HG00320, HG00533, NA19788, NA19776, HG01390, NA18566, NA19114, NA18499, NA11894, NA18856, HG01383, NA12892, HG00613, HG00525, NA18853, NA12827, NA20282, NA19225, NA20542, NA18945, NA18576, NA20296, HG00476, NA18542, NA18909, NA19108, NA18952, NA12775, NA19473, HG00375, NA19732, HG00136, NA19435, NA20804, NA19240, NA19380, NA19144, HG01494, NA19467, HG01108, HG00125, NA20341, NA19078, HG00672, HG00111, HG01491, NA18987, NA12830, NA20807, HG00698, HG00252, NA19661, HG01377, NA18984, HG00472, NA18505, NA19004, NA18488, HG01082, NA18511, NA18522, NA18622, HG00437, NA18562, NA12776, NA18965
Known GenesGPR143
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672365
Frequency
Sample Size1151
Observed Gain0
Observed Loss328
Observed Complex0
Frequencyn/a


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