A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641565



Internal ID6681650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2659473..2734291hg38UCSC Ensembl
chr18:2659472..2734289hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3874819
hg1974818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15778269, essv15778294, essv15778216, essv15778154, essv15778145, essv15778292, essv15778197, essv15778181, essv15778170, essv15778144, essv15778142, essv15778217, essv15778215, essv15778252, essv15778296, essv15778146, essv15778323, essv15778313, essv15778293, essv15778231, essv15778266, essv15778297, essv15778220, essv15778189, essv15778234, essv15778159, essv15778161, essv15778284, essv15778259, essv15778138, essv15778164, essv15778177, essv15778316, essv15778163, essv15778277, essv15778162, essv15778253, essv15778166, essv15778155, essv15778172, essv15778180, essv15778239, essv15778141, essv15778160, essv15778198, essv15778324, essv15778219, essv15778272, essv15778287, essv15778193, essv15778300, essv15778158, essv15778210, essv15778317, essv15778321, essv15778196, essv15778213, essv15778222, essv15778178, essv15778211, essv15778233, essv15778264, essv15778276, essv15778147, essv15778256, essv15778187, essv15778209, essv15778327, essv15778286, essv15778237, essv15778268, essv15778190, essv15778156, essv15778241, essv15778291, essv15778302, essv15778274, essv15778322, essv15778275, essv15778169, essv15778243, essv15778247, essv15778244, essv15778249, essv15778285, essv15778227, essv15778315, essv15778279, essv15778329, essv15778263, essv15778270, essv15778328, essv15778165, essv15778194, essv15778288, essv15778226, essv15778186, essv15778153, essv15778192, essv15778206, essv15778212, essv15778139, essv15778235, essv15778309, essv15778150, essv15778307, essv15778140, essv15778185, essv15778195, essv15778179, essv15778201, essv15778223, essv15778232, essv15778295, essv15778262, essv15778182, essv15778255, essv15778260, essv15778236, essv15778314, essv15778174, essv15778202, essv15778218, essv15778281, essv15778240, essv15778273, essv15778257, essv15778298, essv15778152, essv15778280, essv15778318, essv15778157, essv15778245, essv15778230, essv15778310, essv15778250, essv15778283, essv15778289, essv15778246, essv15778299, essv15778303, essv15778251, essv15778325, essv15778199, essv15778258, essv15778271, essv15778254, essv15778207, essv15778224, essv15778304, essv15778214, essv15778208, essv15778143, essv15778320, essv15778203, essv15778311, essv15778151, essv15778188, essv15778312, essv15778200, essv15778306, essv15778305, essv15778204, essv15778173, essv15778319, essv15778326, essv15778238, essv15778265, essv15778176, essv15778205, essv15778229, essv15778261, essv15778290, essv15778267, essv15778148, essv15778191, essv15778168, essv15778221, essv15778225, essv15778278, essv15778282, essv15778175, essv15778228, essv15778183, essv15778242, essv15778308, essv15778248, essv15778171, essv15778301, essv15778167, essv15778330, essv15778184, essv15778149
SamplesHG02691, HG03684, HG02724, HG03755, HG03858, HG03963, HG02657, HG02793, HG03705, HG01846, HG03785, HG02165, HG03729, HG03985, HG03479, HG04003, HG02697, HG03631, HG03744, HG04202, HG03703, HG02655, HG01859, HG03478, HG03856, HG03868, HG02727, HG02600, HG01858, HG02549, HG03693, HG03741, HG01970, HG03634, HG02601, HG02734, HG04096, HG04211, HG03643, HG02648, HG01197, HG03896, HG04056, HG02783, HG00189, HG02681, HG04026, HG04229, HG02733, HG03642, HG03653, HG02652, HG01954, HG02790, HG03229, HG04214, HG04200, HG03960, HG02049, HG04100, HG02789, HG03714, HG03949, HG02778, HG03947, HG01968, HG04106, HG03756, HG03752, HG03836, HG03652, HG04238, HG04210, HG02684, HG01092, HG03736, HG04075, HG02696, HG02700, NA12004, HG03953, HG03686, HG01061, HG02577, HG03867, HG03774, HG03899, HG03624, HG03717, HG03681, HG03898, HG03770, HG03727, HG03844, HG03965, HG03851, HG03871, HG02078, HG04042, HG04222, HG04063, HG03864, HG03781, HG01599, HG03971, HG03848, HG02737, HG03780, HG03895, NA19055, HG02603, HG04059, HG00742, HG03757, HG03773, HG03786, HG04017, HG02127, HG03743, HG02786, HG03754, HG03782, HG04080, HG04239, HG01170, HG02558, HG03974, HG03740, HG01889, HG02780, HG04212, HG03645, NA18988, HG02072, HG03738, HG03978, HG03228, HG03692, HG03713, HG03945, HG03767, HG03943, HG02345, HG04235, HG01162, HG03237, HG03875, HG01971, HG03772, HG04022, HG03745, HG03789, HG03679, HG04047, HG03866, HG04019, HG01872, HG02688, HG03238, HG03694, HG03986, HG02604, HG03644, HG03716, HG03989, HG01303, HG03872, HG04035, HG03999, HG01412, HG03708, HG04018, HG03890, HG01886, HG01855, HG03640, HG03016, HG03838, HG02728, HG04015, NA19350, HG04006, HG03695, HG03837, HG02784, HG03720, HG03730, HG01976, HG03490, HG03991, HG02774, HG03775, HG04107
Known GenesSMCHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641565
Frequency
Sample Size2504
Observed Gain0
Observed Loss193
Observed Complex0
Frequencyn/a


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