A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601587



Internal ID6641842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101039004..101040039hg38UCSC Ensembl
Innerchr4:101039004..101040039hg38UCSC Ensembl
Outerchr4:101039004..101040039hg38UCSC Ensembl
chr4:101960161..101961196hg19UCSC Ensembl
Innerchr4:101960161..101961196hg19UCSC Ensembl
Outerchr4:101960161..101961196hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11544285, essv11544610, essv11544461, essv11544490, essv11544236, essv11544265, essv11544141, essv11544042, essv11543982, essv11544303, essv11544207, essv11544466, essv11544190, essv11544127, essv11543965, essv11544387, essv11544278, essv11544051, essv11543989, essv11544519, essv11544065, essv11544424, essv11543954, essv11544071, essv11544137, essv11544412, essv11544396, essv11544378, essv11544118, essv11544582, essv11544527, essv11544291, essv11544258, essv11544491, essv11544246, essv11544595, essv11544469, essv11544171, essv11544399, essv11544267, essv11544138, essv11544464, essv11544083, essv11544342, essv11544021, essv11544410, essv11544372, essv11543985, essv11544222, essv11544575, essv11544129, essv11544113, essv11543998, essv11544543, essv11544335, essv11544311, essv11544423, essv11543980, essv11544389, essv11544085, essv11544524, essv11544023, essv11544554, essv11544454, essv11544589, essv11544563, essv11544516, essv11544233, essv11544184, essv11544081, essv11544005, essv11543960, essv11544163, essv11544525, essv11544214, essv11544102, essv11544539, essv11544564, essv11544189, essv11544224, essv11544404, essv11544076, essv11544279, essv11543991, essv11544277, essv11544132, essv11544297, essv11544319, essv11544256, essv11544288, essv11544536, essv11544329, essv11544576, essv11544136, essv11543990, essv11544063, essv11544032, essv11544467, essv11544066, essv11544608, essv11544100, essv11544496, essv11544194, essv11544020, essv11544325, essv11544427, essv11544318, essv11544370, essv11544028, essv11544487, essv11544185, essv11544482, essv11544336, essv11544245, essv11544477, essv11544046, essv11544133, essv11544362, essv11544409, essv11544317, essv11544016, essv11544431, essv11544479, essv11544201, essv11544541, essv11544148, essv11544457, essv11544358, essv11544542, essv11544271, essv11544053, essv11544593, essv11544103, essv11543986, essv11544494, essv11544112, essv11544574, essv11544450, essv11544401, essv11543995, essv11544585, essv11544149, essv11544312, essv11544557, essv11544158, essv11544392, essv11544345, essv11544561, essv11544523, essv11544213, essv11544012, essv11544170, essv11544182, essv11544394, essv11544316, essv11544033, essv11544301, essv11544044, essv11544551, essv11544067, essv11544581, essv11544458, essv11544095, essv11544109, essv11543966, essv11544029, essv11544439, essv11544211, essv11544531, essv11543961, essv11544164, essv11544280, essv11544282, essv11544120, essv11544354, essv11544565, essv11544126, essv11544558, essv11544072, essv11544528, essv11544242, essv11544092, essv11544367, essv11544324, essv11544041, essv11544252, essv11544361, essv11544592, essv11544327, essv11544059, essv11544338, essv11544089, essv11544569, essv11544298, essv11544160, essv11543962, essv11544004, essv11543956, essv11544609, essv11544453, essv11544571, essv11544368, essv11544210, essv11544377, essv11544212, essv11544237, essv11544263, essv11544545, essv11544471, essv11544187, essv11544123, essv11544218, essv11544142, essv11544134, essv11544514, essv11544422, essv11544234, essv11543964, essv11544220, essv11544188, essv11544441, essv11544586, essv11544101, essv11543955, essv11544428, essv11544500, essv11544167, essv11544153, essv11544165, essv11544495, essv11544274, essv11544244, essv11543959, essv11543999, essv11544093, essv11544483, essv11544161, essv11544178, essv11544215, essv11544002, essv11544435, essv11544433, essv11544144, essv11544105, essv11544243, essv11544529, essv11544476, essv11544174, essv11544257, essv11544045, essv11544015, essv11544097, essv11544363, essv11544168, essv11544056, essv11544596, essv11544356, essv11544106, essv11544069, essv11544068, essv11544535, essv11544382, essv11544570, essv11544451, essv11544035, essv11544343, essv11543973, essv11544560, essv11544346, essv11543971, essv11544406, essv11544440, essv11544590, essv11544320, essv11544556, essv11544383, essv11544308, essv11543957, essv11544488, essv11544485, essv11544155, essv11544037, essv11544505, essv11544486, essv11543987, essv11544611, essv11543951, essv11544011, essv11544510, essv11544434, essv11544239, essv11544007, essv11544447, essv11544031, essv11544425, essv11544499, essv11543969, essv11544421, essv11544415, essv11544131, essv11544248, essv11544588, essv11544520, essv11544331, essv11544403, essv11544117, essv11544058, essv11544553, essv11544328, essv11544300, essv11544584, essv11544350, essv11544537, essv11544139, essv11544107, essv11544468, essv11544235, essv11543994, essv11544405, essv11544323, essv11544375, essv11544231, essv11544079, essv11544517, essv11544333, essv11544156, essv11544070, essv11544568, essv11544208, essv11544078, essv11544255, essv11543952, essv11544104, essv11544253, essv11543953, essv11544360, essv11544152, essv11544559, essv11544048, essv11544313, essv11544264, essv11543981, essv11544562, essv11544261, essv11544417, essv11544003, essv11544478, essv11544296, essv11544284, essv11544481, essv11543992, essv11544332, essv11544228, essv11544506, essv11544612, essv11544026, essv11544008, essv11544177, essv11544119, essv11544052, essv11543972, essv11543958, essv11544480, essv11544322, essv11544474, essv11544034, essv11544281, essv11544413, essv11544172, essv11543963, essv11544613, essv11544602, essv11544393, essv11544371, essv11544225, essv11544580, essv11544518, essv11544203, essv11544205, essv11544397, essv11544094, essv11544199, essv11544151, essv11544402, essv11544232, essv11544463, essv11544226, essv11544270, essv11544198, essv11544286, essv11544534, essv11544504, essv11544455, essv11544229, essv11544547, essv11544530, essv11544513, essv11544010, essv11544230, essv11544108, essv11543967, essv11544351, essv11544566, essv11544366, essv11544057, essv11544250, essv11544249, essv11543984, essv11544408, essv11543997, essv11544181, essv11543948, essv11544186, essv11544049, essv11544492, essv11544091, essv11544501, essv11544290, essv11544386, essv11544597, essv11544330, essv11544060, essv11544526, essv11544511, essv11544090, essv11544009, essv11544398, essv11544459, essv11544572, essv11544193, essv11544014, essv11544583, essv11544241, essv11544130, essv11544388, essv11544115, essv11544442, essv11544347, essv11544159, essv11544024, essv11544321, essv11544283, essv11544087, essv11544084, essv11544373, essv11544116, essv11544445, essv11544269, essv11544391, essv11544578, essv11544446, essv11544272, essv11544216, essv11544135, essv11544573, essv11544507, essv11544355, essv11544295, essv11544259, essv11544365, essv11544077, essv11544411, essv11544299, essv11544567, essv11544452, essv11544307, essv11544268, essv11544503, essv11543970, essv11544591, essv11544025, essv11544039, essv11544326, essv11543996, essv11544605, essv11544114, essv11544546, essv11544121, essv11544305, essv11544027, essv11544013, essv11544275, essv11544289, essv11544359, essv11543993, essv11544348, essv11544598, essv11544074, essv11544381, essv11544075, essv11544195, essv11544157, essv11544166, essv11544460, essv11544587, essv11544304, essv11544022, essv11544502, essv11544606, essv11544339, essv11544416, essv11544380, essv11544599, essv11544601, essv11543975, essv11544432, essv11544306, essv11544512, essv11544292, essv11544006, essv11544420, essv11544180, essv11544374, essv11544169, essv11544191, essv11544001, essv11543979, essv11544549, essv11543978, essv11544204, essv11544395, essv11544302, essv11544400, essv11544498, essv11544197, essv11544497, essv11544179, essv11544470, essv11544247, essv11544040, essv11544047, essv11544128, essv11544111, essv11544050, essv11544019, essv11544221, essv11544508, essv11544334, essv11544550, essv11544489, essv11544030, essv11544110, essv11544429, essv11543949, essv11543983, essv11543950, essv11544073, essv11544594, essv11544376, essv11544521, essv11544064, essv11544577, essv11544349, essv11544061, essv11544337, essv11544473, essv11544379, essv11544456, essv11544147, essv11544407, essv11544384, essv11544038, essv11544200, essv11544287, essv11544369, essv11544054, essv11544437, essv11544196, essv11543977, essv11544036, essv11544444, essv11544414, essv11544548, essv11544055, essv11544017, essv11544266, essv11544082, essv11544472, essv11544150, essv11544475, essv11544600, essv11544260, essv11544262, essv11544310, essv11544294, essv11544538, essv11543976, essv11544088, essv11544436, essv11544555, essv11544219, essv11544240, essv11544154, essv11544096, essv11544202, essv11544227, essv11544000, essv11543974, essv11544341, essv11544509, essv11544385, essv11544419, essv11544293, essv11544448, essv11544603, essv11544438, essv11544276, essv11544315, essv11544390, essv11544238, essv11544080, essv11544018, essv11544522, essv11544352, essv11544552, essv11544533, essv11544043, essv11544251, essv11544099, essv11544418, essv11544145, essv11544357, essv11544273, essv11544223, essv11544309, essv11544183, essv11544607, essv11544254, essv11544544, essv11544540, essv11544062, essv11544146, essv11543988, essv11544173, essv11544086, essv11543947, essv11543968, essv11544122, essv11544175, essv11544140, essv11544217, essv11544176, essv11544340, essv11544162, essv11544364, essv11544353, essv11544143, essv11544430, essv11544314, essv11544124, essv11544209, essv11544449, essv11544465, essv11544426, essv11544484, essv11544443, essv11544493, essv11544515, essv11544206, essv11544192, essv11544579, essv11544098, essv11544462, essv11544125, essv11544532, essv11544344, essv11544604
SamplesHG01985, HG00189, NA19028, HG03593, NA20529, NA21111, HG00142, NA19399, NA12414, NA21099, HG03687, HG01602, HG03247, NA12843, HG00257, HG00151, HG02798, HG00233, HG02600, HG03616, HG01486, NA19377, NA21128, HG01704, NA12750, HG02769, HG03837, HG03603, HG03645, HG01350, HG01325, HG03770, HG02690, NA20798, HG01167, HG02840, HG01766, NA20911, NA20795, HG02756, HG03673, NA18916, HG02645, HG02299, NA11918, HG00355, HG01365, NA19384, HG01859, HG04033, HG00281, NA19720, HG03520, NA20775, NA20812, HG02634, HG03212, NA19238, HG02642, HG01284, HG03947, HG01771, NA20757, HG03649, HG00323, HG01550, NA20755, HG01565, HG03697, NA20892, NA20535, NA12760, HG00731, HG01501, HG02793, HG01200, HG01122, HG04146, HG03718, NA19184, NA20810, NA20760, NA19043, NA19663, HG03711, HG03771, NA20832, HG01796, HG03781, NA18981, HG01630, HG01102, HG03829, NA20903, HG01762, HG03951, NA11893, NA21112, HG04017, HG01334, NA19452, HG03006, HG04176, HG02219, HG01697, NA19395, HG04093, HG04200, HG03934, NA20851, NA20799, HG04025, NA19652, NA19440, HG03848, NA21144, HG04026, NA19434, HG03875, HG02308, NA12873, HG03702, HG03869, NA19428, HG02464, HG03973, HG03703, NA20888, NA20906, NA20897, NA19117, HG03600, HG01765, NA18631, HG00381, HG01912, NA19351, HG03849, HG04098, HG01631, NA19770, HG04171, HG00274, NA20503, HG02947, HG03198, HG01509, HG01437, HG01618, NA11832, NA20772, HG03864, NA20762, HG03812, NA20874, HG00114, HG01746, HG01413, HG00235, NA19648, HG00121, NA20853, HG01054, NA19397, NA12814, HG01359, HG01348, NA20899, HG01537, HG00100, HG01586, HG04202, NA19704, NA19734, HG00306, NA20813, NA20321, NA19092, HG03772, NA21115, HG04018, NA20808, HG00341, HG02734, HG03577, HG03172, HG04001, HG03950, NA12413, NA12341, HG01250, NA19746, NA19076, HG01503, NA12812, HG00109, HG03099, NA20890, HG02541, HG03937, HG03765, NA19916, NA20769, HG03246, HG02655, HG01354, NA20540, HG04131, NA20513, HG03762, HG01110, HG03594, NA20541, NA19038, HG03830, HG03793, HG03868, HG03209, HG00277, HG02493, HG02224, HG01170, HG00236, HG01757, NA19719, HG04106, HG01767, HG03624, NA19471, HG03777, HG02471, NA12889, NA12815, HG03995, NA19159, HG03744, HG00637, NA20764, HG03750, NA12828, NA20587, HG01605, HG03369, HG00419, HG03884, NA19451, NA21122, NA12748, HG01603, HG03709, HG03780, HG00176, NA20787, HG02582, HG03760, NA19327, HG01612, HG04035, NA21098, HG01880, HG04180, HG02497, NA20770, HG01948, HG02789, HG01392, HG03563, HG01161, HG01414, NA19655, HG02817, HG00373, NA20859, HG01197, HG03078, HG01707, HG01504, HG04155, HG01182, HG03740, HG02283, HG03571, HG01679, NA06985, HG00141, HG03991, HG03940, NA21143, HG01363, HG04219, NA18535, HG02759, HG03367, HG02501, HG03838, HG00375, HG01362, HG03689, HG03433, HG03012, NA19310, HG01260, NA20803, NA21094, HG03019, NA20887, HG00125, NA21125, NA19376, HG03039, HG01432, HG03442, HG02238, NA20582, NA19472, HG00174, NA21101, NA12830, HG03258, NA20807, HG00252, HG01617, HG01377, NA19146, HG01583, HG04210, NA20882, NA19701, NA12717, HG02944, HG00304, HG03484, HG02628, HG02072, NA19909, HG02002, HG00102, NA20508, NA21127, NA10851, NA20783, HG04158, HG02727, HG01066, HG00315, HG03115, HG02012, HG00244, NA19350, NA20298, NA12340, HG03229, HG00737, HG00115, NA19443, HG00261, HG00097, NA12399, HG04156, HG01522, HG01513, NA20814, NA21135, HG02621, HG00272, HG04038, HG03016, HG02016, HG03943, HG01702, HG01277, HG04042, HG03604, NA07347, NA19457, NA21108, HG02603, NA20539, HG03887, NA12275, HG01069, NA20518, NA20278, HG00148, NA12156, HG02736, HG00325, NA11932, HG00232, NA12044, NA11994, HG03691, HG04020, HG03814, NA20889, HG00160, HG02545, HG01121, HG02780, HG01275, NA21105, NA20753, HG00743, HG03861, HG00332, HG00245, HG01669, NA21119, HG02678, NA19984, HG04195, HG01979, HG01077, HG03805, HG02165, HG01675, HG00551, HG00239, NA20525, NA19654, NA11919, HG00651, NA20866, HG01536, HG00350, HG02657, HG03631, HG03643, HG01593, HG01101, HG03953, HG03971, HG03914, HG01474, HG03898, HG02594, HG02568, NA12043, NA19017, HG02660, HG01148, NA19375, HG02330, HG00258, HG00155, HG00254, NA19149, HG03437, NA20276, NA19019, HG00353, NA20815, HG04186, HG02790, HG03692, HG01685, HG00734, HG01272, HG01357, NA21123, HG01375, HG00237, HG02941, HG01137, HG00339, HG04080, HG02694, HG03112, HG02095, HG04140, HG00259, NA20847, NA21090, NA21102, NA21133, NA20510, NA18636, NA21093, NA20289, HG00280, HG03925, HG03872, NA19711, HG03077, HG01468, NA19900, HG01479, HG01431, HG02778, NA12890, HG02805, HG03439, HG01786, NA19214, NA21120, HG00255, NA21091, NA19676, HG03514, HG04212, HG03366, NA11830, HG03857, HG02610, NA21097, HG01098, NA20543, HG00231, NA21089, HG00361, HG00351, HG03237, NA19332, NA21092, HG03607, HG01970, NA20532, HG02891, HG00367, HG03130, HG03668, NA19393, NA20805, HG03895, HG03518, HG00177, HG01632, HG03944, HG03199, HG03074, HG04100, NA19201, HG02810, HG01779, HG03490, HG02491, HG03976, HG03485, NA12348, HG03885, NA19138, NA21103, HG01668, HG02786, NA20910, HG03803, HG04214, HG03826, HG03897, HG01398, HG00379, NA18874, HG01628, HG03595, NA19137, HG03788, HG03696, NA19317, NA21107, HG03693, HG01440, NA20869, NA20811, HG03225, HG02073, HG00159, HG03267, NA19445, HG00739, HG01312, NA21106, NA10847, HG01353, HG01183, NA20854, HG03902, HG03844, HG03785, HG03908, HG03054, HG01248, NA19437, HG01187, HG02233, HG00145, HG03007, HG01247, HG00328, HG01162, HG03291, HG01515, HG03428, HG01989, HG03945, NA20506, HG03919, NA21116, HG01615, HG01311, HG04054, HG03476, NA21141, NA19113, HG03974, HG02086, HG03745, NA19338, NA19257, HG00276, HG02585, HG03755, HG03774, HG01530, NA19436, NA18608, HG01444, NA20522, HG03833, NA18909, NA18961, HG00357, HG03899, NA20804, HG00278, NA20785, NA19334, HG03488, HG01494, HG01974, HG02839, NA19467, HG03846, NA20516, HG04090, NA19085, NA06986, HG04141, HG00107, HG04023, NA20348, HG01491, HG03789, NA21088, HG02053, HG01055, HG01089, HG03684, HG03894, HG01105, HG02052, HG02051, NA20886, NA19755, HG03856, NA20763, HG01566, NA18522, NA21104, HG03931, HG00554, HG03698, HG00180, HG01578, HG01061, HG00978, HG03886, HG01608
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601587
Frequency
Sample Size2504
Observed Gain0
Observed Loss667
Observed Complex0
Frequencyn/a


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