A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620518



Internal ID7007389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62842059..62881440hg38UCSC Ensembl
chr9:66497883..66537264hg19UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3839382
hg1939382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1480e214
Supporting Variantsessv13497580, essv13497563, essv13497284, essv13497542, essv13497264, essv13497373, essv13497592, essv13497306, essv13497612, essv13497593, essv13497466, essv13497343, essv13497608, essv13497361, essv13497386, essv13497236, essv13497420, essv13497367, essv13497551, essv13497340, essv13497462, essv13497388, essv13497245, essv13497232, essv13497332, essv13497298, essv13497352, essv13497353, essv13497230, essv13497242, essv13497229, essv13497428, essv13497339, essv13497572, essv13497433, essv13497337, essv13497234, essv13497246, essv13497490, essv13497348, essv13497479, essv13497610, essv13497460, essv13497619, essv13497548, essv13497513, essv13497562, essv13497515, essv13497511, essv13497482, essv13497330, essv13497263, essv13497477, essv13497456, essv13497435, essv13497359, essv13497611, essv13497362, essv13497383, essv13497531, essv13497403, essv13497537, essv13497526, essv13497497, essv13497251, essv13497499, essv13497387, essv13497617, essv13497309, essv13497260, essv13497616, essv13497286, essv13497256, essv13497498, essv13497538, essv13497467, essv13497540, essv13497335, essv13497585, essv13497360, essv13497618, essv13497438, essv13497345, essv13497436, essv13497258, essv13497293, essv13497601, essv13497558, essv13497596, essv13497376, essv13497310, essv13497417, essv13497429, essv13497476, essv13497375, essv13497333, essv13497325, essv13497308, essv13497253, essv13497625, essv13497452, essv13497453, essv13497430, essv13497614, essv13497532, essv13497254, essv13497587, essv13497534, essv13497512, essv13497494, essv13497305, essv13497488, essv13497291, essv13497327, essv13497493, essv13497545, essv13497301, essv13497615, essv13497590, essv13497380, essv13497313, essv13497573, essv13497598, essv13497240, essv13497489, essv13497432, essv13497302, essv13497553, essv13497475, essv13497465, essv13497252, essv13497372, essv13497527, essv13497323, essv13497514, essv13497517, essv13497297, essv13497569, essv13497392, essv13497354, essv13497427, essv13497357, essv13497480, essv13497397, essv13497364, essv13497621, essv13497268, essv13497556, essv13497259, essv13497272, essv13497561, essv13497541, essv13497492, essv13497445, essv13497267, essv13497552, essv13497328, essv13497533, essv13497241, essv13497579, essv13497575, essv13497439, essv13497507, essv13497407, essv13497371, essv13497597, essv13497543, essv13497244, essv13497368, essv13497366, essv13497238, essv13497516, essv13497273, essv13497525, essv13497311, essv13497389, essv13497247, essv13497447, essv13497290, essv13497329, essv13497602, essv13497544, essv13497307, essv13497409, essv13497346, essv13497577, essv13497324, essv13497292, essv13497331, essv13497474, essv13497521, essv13497446, essv13497603, essv13497503, essv13497358, essv13497381, essv13497285, essv13497400, essv13497374, essv13497363, essv13497444, essv13497464, essv13497410, essv13497228, essv13497349, essv13497312, essv13497237, essv13497411, essv13497606, essv13497520, essv13497469, essv13497287, essv13497501, essv13497321, essv13497471, essv13497255, essv13497518, essv13497377, essv13497261, essv13497470, essv13497440, essv13497487, essv13497396, essv13497299, essv13497599, essv13497581, essv13497491, essv13497449, essv13497496, essv13497394, essv13497549, essv13497594, essv13497455, essv13497557, essv13497282, essv13497379, essv13497278, essv13497249, essv13497510, essv13497344, essv13497408, essv13497524, essv13497620, essv13497398, essv13497226, essv13497568, essv13497570, essv13497486, essv13497485, essv13497448, essv13497314, essv13497320, essv13497550, essv13497404, essv13497233, essv13497289, essv13497583, essv13497280, essv13497422, essv13497509, essv13497607, essv13497250, essv13497459, essv13497350, essv13497589, essv13497451, essv13497535, essv13497395, essv13497468, essv13497296, essv13497586, essv13497588, essv13497622, essv13497303, essv13497441, essv13497529, essv13497336, essv13497316, essv13497266, essv13497523, essv13497473, essv13497365, essv13497591, essv13497536, essv13497450, essv13497288, essv13497393, essv13497571, essv13497505, essv13497539, essv13497506, essv13497500, essv13497412, essv13497304, essv13497495, essv13497415, essv13497341, essv13497418, essv13497595, essv13497356, essv13497322, essv13497554, essv13497401, essv13497281, essv13497315, essv13497578, essv13497443, essv13497528, essv13497326, essv13497504, essv13497402, essv13497384, essv13497555, essv13497243, essv13497265, essv13497463, essv13497391, essv13497431, essv13497624, essv13497300, essv13497566, essv13497342, essv13497522, essv13497565, essv13497271, essv13497276, essv13497390, essv13497347, essv13497318, essv13497613, essv13497378, essv13497564, essv13497425, essv13497231, essv13497406, essv13497355, essv13497454, essv13497502, essv13497424, essv13497351, essv13497414, essv13497283, essv13497274, essv13497257, essv13497382, essv13497623, essv13497508, essv13497399, essv13497369, essv13497519, essv13497405, essv13497576, essv13497370, essv13497225, essv13497457, essv13497334, essv13497262, essv13497584, essv13497472, essv13497442, essv13497319, essv13497269, essv13497235, essv13497546, essv13497277, essv13497227, essv13497434, essv13497423, essv13497279, essv13497567, essv13497275, essv13497239, essv13497338, essv13497419, essv13497421, essv13497604, essv13497458, essv13497270, essv13497559, essv13497600, essv13497605, essv13497609, essv13497530, essv13497385, essv13497582, essv13497295, essv13497484, essv13497574, essv13497560, essv13497416, essv13497413, essv13497248, essv13497483, essv13497426, essv13497481, essv13497478, essv13497437, essv13497461, essv13497294, essv13497547, essv13497317
SamplesNA18502, NA20882, HG00650, HG03484, NA21111, NA19703, NA20891, HG03378, HG00608, NA19909, NA18621, HG02385, NA18947, NA19066, NA21127, NA19204, NA18861, HG00559, HG04222, HG02784, HG02122, HG02029, NA18999, NA19350, HG01806, HG02691, HG02600, HG02323, HG03298, HG02017, HG03229, NA18959, NA18616, HG02384, NA20863, HG02154, NA18633, NA18627, HG04059, HG00663, NA18563, HG01873, HG02621, HG04038, NA19315, NA18597, NA18995, HG03808, HG02140, HG02156, HG00674, HG03091, NA18567, NA18993, HG03673, HG02860, NA19062, NA11918, NA18582, NA20768, NA19457, NA18571, HG02054, HG01063, NA21108, HG00334, HG00537, NA18949, HG01859, HG00632, HG02187, HG01849, HG00534, HG02082, HG00705, NA18966, HG04047, NA18557, HG02260, NA18985, HG02409, NA20515, HG04075, HG03784, HG01851, NA18645, HG01847, NA18538, NA19091, NA19006, HG01857, HG02380, HG00360, NA12878, NA19086, HG02084, HG00132, HG00556, HG02887, HG01845, NA19081, NA18579, HG02522, HG02165, NA18572, HG01323, NA18534, NA18981, HG00692, NA19461, HG00690, HG00404, HG02445, HG00531, NA19042, HG00684, HG03446, HG02141, NA18532, NA18553, HG03024, NA19099, NA19009, HG03914, HG03046, NA18523, NA19318, HG02635, NA19395, NA18570, HG02594, NA18593, HG02127, HG01956, HG03653, HG03934, NA18953, HG00407, NA19003, HG01597, NA18517, HG03437, HG00625, NA20276, HG03708, NA18628, HG02355, HG03692, NA19331, HG02391, NA19010, HG02982, HG01866, NA19679, NA19428, HG03304, HG02464, NA19083, NA18943, HG02580, NA19360, NA12763, HG00662, NA18615, HG03103, HG02133, HG01785, HG03600, HG00614, HG00513, HG02401, HG02147, HG03977, HG01868, HG00267, HG02116, NA18636, HG01799, NA18609, HG02182, HG04171, HG01468, NA19030, HG02763, HG01807, NA18957, HG01920, NA18989, HG02855, NA19011, NA18623, HG02351, NA20585, HG03198, NA18740, NA18612, NA19346, HG00581, NA18577, NA18997, HG00403, NA18998, HG00881, HG03096, HG03773, HG03366, HG00592, HG00121, HG00536, NA19397, NA18924, HG03965, HG03731, NA18592, HG01860, HG01855, NA18980, NA18561, HG03738, HG02061, HG02360, HG04094, HG02476, NA18545, HG01531, NA18596, NA21115, NA18625, HG02394, NA20346, HG00341, HG00177, HG00879, NA19190, NA18526, NA19314, HG02023, NA18962, HG03199, HG03095, NA18967, HG03074, HG03082, NA19005, NA18944, NA18550, HG02153, HG02151, HG02407, NA19728, HG01853, NA18595, HG03490, HG02087, HG00689, HG00448, NA18982, NA18635, NA20900, NA18619, HG03370, HG01843, HG00610, HG02374, HG00851, NA19054, HG04131, HG01848, HG01242, HG03793, HG02281, HG01893, HG00683, HG02067, HG02573, NA18977, NA19137, NA18560, HG03788, HG01527, NA19731, HG03746, NA19075, HG03195, HG03624, HG02471, NA12889, HG03995, HG02138, HG03225, HG02073, NA18975, NA18640, HG00675, HG01312, NA18544, HG02977, HG02166, HG00560, HG03785, HG00596, HG01595, HG02025, NA19077, HG02697, HG00428, NA19347, NA18956, NA18644, HG03547, HG00701, HG02076, HG02108, HG02554, NA18939, HG00436, HG01810, HG00584, HG00533, HG01989, HG02968, NA18976, HG01808, HG02364, HG01094, HG03085, NA19114, HG01414, HG00956, HG00844, HG03397, HG02604, NA18946, NA19001, HG02086, HG00613, HG01708, NA18634, NA18945, NA18646, NA18546, HG03567, NA18978, HG02613, NA19206, NA18542, NA18909, HG03240, NA18952, NA18543, NA18559, HG01800, HG00638, NA20804, HG00623, NA20351, NA12046, NA19334, HG01598, HG00631, HG00607, HG02839, NA18643, NA18591, NA19741, HG02139, HG03108, HG03019, NA19475, NA19376, HG02398, NA19078, HG00707, HG00672, NA18971, NA18987, HG03049, HG00656, NA18994, HG02113, HG03684, HG01817, HG00698, NA19213, NA18972, HG02186, HG00343, HG00472, HG03882, NA19004, HG02465, HG01863, HG03072, HG02284, HG01886, HG01869, HG01097, NA18549, NA18622, NA18562, NA18965
Known GenesPTGER4P2-CDK2AP2P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620518
Frequency
Sample Size2504
Observed Gain401
Observed Loss0
Observed Complex0
Frequencyn/a


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