A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628638



Internal ID7015462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13899395..13899888hg38UCSC Ensembl
Innerchr12:13899396..13899887hg38UCSC Ensembl
Outerchr12:13899394..13899889hg38UCSC Ensembl
chr12:14052329..14052822hg19UCSC Ensembl
Innerchr12:14052330..14052821hg19UCSC Ensembl
Outerchr12:14052328..14052823hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14391302, essv14391662, essv14391671, essv14391341, essv14391684, essv14391290, essv14391619, essv14391519, essv14391454, essv14391266, essv14391425, essv14391408, essv14391288, essv14391495, essv14391611, essv14391310, essv14391338, essv14391646, essv14391567, essv14391458, essv14391613, essv14391517, essv14391598, essv14391304, essv14391535, essv14391505, essv14391644, essv14391360, essv14391608, essv14391252, essv14391653, essv14391539, essv14391628, essv14391401, essv14391319, essv14391622, essv14391316, essv14391586, essv14391297, essv14391262, essv14391323, essv14391484, essv14391528, essv14391451, essv14391283, essv14391556, essv14391399, essv14391393, essv14391533, essv14391445, essv14391275, essv14391402, essv14391679, essv14391645, essv14391386, essv14391419, essv14391574, essv14391455, essv14391587, essv14391390, essv14391525, essv14391659, essv14391364, essv14391443, essv14391532, essv14391427, essv14391529, essv14391309, essv14391407, essv14391349, essv14391575, essv14391470, essv14391664, essv14391379, essv14391466, essv14391263, essv14391508, essv14391621, essv14391531, essv14391385, essv14391577, essv14391315, essv14391394, essv14391625, essv14391510, essv14391369, essv14391562, essv14391331, essv14391345, essv14391636, essv14391513, essv14391524, essv14391599, essv14391655, essv14391509, essv14391563, essv14391497, essv14391328, essv14391490, essv14391667, essv14391623, essv14391492, essv14391569, essv14391661, essv14391410, essv14391603, essv14391273, essv14391590, essv14391592, essv14391496, essv14391642, essv14391474, essv14391554, essv14391483, essv14391543, essv14391639, essv14391541, essv14391448, essv14391564, essv14391256, essv14391620, essv14391494, essv14391439, essv14391370, essv14391602, essv14391380, essv14391666, essv14391552, essv14391282, essv14391640, essv14391607, essv14391416, essv14391518, essv14391516, essv14391411, essv14391342, essv14391285, essv14391647, essv14391363, essv14391581, essv14391682, essv14391580, essv14391504, essv14391384, essv14391362, essv14391387, essv14391295, essv14391545, essv14391463, essv14391286, essv14391675, essv14391356, essv14391347, essv14391299, essv14391446, essv14391365, essv14391324, essv14391267, essv14391374, essv14391329, essv14391305, essv14391557, essv14391348, essv14391327, essv14391498, essv14391430, essv14391383, essv14391279, essv14391337, essv14391472, essv14391287, essv14391359, essv14391343, essv14391542, essv14391424, essv14391292, essv14391614, essv14391669, essv14391500, essv14391291, essv14391641, essv14391609, essv14391436, essv14391432, essv14391673, essv14391632, essv14391546, essv14391412, essv14391591, essv14391487, essv14391665, essv14391478, essv14391301, essv14391618, essv14391270, essv14391560, essv14391336, essv14391409, essv14391449, essv14391313, essv14391396, essv14391481, essv14391605, essv14391511, essv14391340, essv14391512, essv14391406, essv14391637, essv14391578, essv14391367, essv14391465, essv14391317, essv14391601, essv14391378, essv14391612, essv14391502, essv14391330, essv14391656, essv14391368, essv14391314, essv14391311, essv14391649, essv14391476, essv14391417, essv14391488, essv14391414, essv14391440, essv14391429, essv14391450, essv14391600, essv14391548, essv14391553, essv14391520, essv14391576, essv14391404, essv14391678, essv14391405, essv14391457, essv14391467, essv14391306, essv14391460, essv14391335, essv14391571, essv14391558, essv14391536, essv14391631, essv14391595, essv14391626, essv14391459, essv14391353, essv14391433, essv14391423, essv14391354, essv14391294, essv14391296, essv14391461, essv14391584, essv14391395, essv14391471, essv14391523, essv14391579, essv14391514, essv14391452, essv14391477, essv14391281, essv14391501, essv14391361, essv14391255, essv14391442, essv14391638, essv14391325, essv14391685, essv14391550, essv14391392, essv14391355, essv14391582, essv14391480, essv14391663, essv14391604, essv14391493, essv14391318, essv14391515, essv14391491, essv14391312, essv14391585, essv14391526, essv14391276, essv14391486, essv14391418, essv14391272, essv14391570, essv14391551, essv14391254, essv14391375, essv14391616, essv14391572, essv14391334, essv14391351, essv14391381, essv14391677, essv14391489, essv14391344, essv14391428, essv14391352, essv14391268, essv14391444, essv14391555, essv14391258, essv14391403, essv14391610, essv14391633, essv14391269, essv14391530, essv14391259, essv14391413, essv14391651, essv14391320, essv14391596, essv14391437, essv14391303, essv14391629, essv14391389, essv14391683, essv14391431, essv14391350, essv14391435, essv14391278, essv14391588, essv14391479, essv14391357, essv14391346, essv14391652, essv14391274, essv14391650, essv14391658, essv14391507, essv14391388, essv14391322, essv14391366, essv14391681, essv14391583, essv14391538, essv14391485, essv14391594, essv14391321, essv14391308, essv14391300, essv14391253, essv14391464, essv14391680, essv14391382, essv14391482, essv14391453, essv14391447, essv14391397, essv14391307, essv14391376, essv14391597, essv14391261, essv14391565, essv14391475, essv14391289, essv14391573, essv14391506, essv14391654, essv14391522, essv14391284, essv14391615, essv14391415, essv14391372, essv14391280, essv14391668, essv14391377, essv14391426, essv14391672, essv14391434, essv14391527, essv14391534, essv14391421, essv14391422, essv14391257, essv14391549, essv14391469, essv14391624, essv14391260, essv14391339, essv14391634, essv14391271, essv14391420, essv14391559, essv14391371, essv14391293, essv14391561, essv14391438, essv14391635, essv14391544, essv14391400, essv14391589, essv14391503, essv14391674, essv14391358, essv14391660, essv14391648, essv14391627, essv14391568, essv14391606, essv14391462, essv14391333, essv14391326, essv14391473, essv14391566, essv14391265, essv14391499, essv14391277, essv14391441, essv14391593, essv14391391, essv14391676, essv14391298, essv14391657, essv14391456, essv14391630, essv14391643, essv14391547, essv14391537, essv14391540, essv14391521, essv14391373, essv14391264, essv14391670, essv14391468, essv14391332, essv14391398, essv14391617
SamplesNA20588, NA12383, NA20761, HG00102, HG01624, NA19664, HG01610, NA12273, HG02784, HG01602, NA21100, NA12843, HG01326, NA11931, HG02231, HG00257, HG02727, HG00233, NA20802, NA20512, HG00181, NA12751, HG02691, NA20294, NA12340, HG00737, HG00115, HG01518, NA21128, NA20771, NA12750, NA12399, NA20806, HG01522, HG01513, HG04059, HG02792, HG03645, HG01350, HG00356, HG00272, HG02016, HG00122, HG03754, NA19764, HG01676, NA21130, NA20774, HG02840, HG01766, HG04042, HG00238, NA07048, NA20822, NA07347, HG01528, NA21108, HG00311, HG00158, HG02278, HG00139, NA20539, HG04183, HG01069, HG01080, NA20278, HG00148, NA20775, NA12156, NA20812, HG02597, HG00232, HG00113, NA11994, HG01284, HG03947, HG04020, NA19036, NA20889, HG00160, HG00118, HG01198, HG01048, HG01771, HG01058, HG01275, HG00326, HG03585, HG01550, HG00253, HG01164, HG01124, NA12760, NA12489, HG00731, HG00380, HG02793, HG01122, HG01670, HG00332, HG02345, HG00360, NA12878, NA20885, HG00732, NA20521, HG01684, HG02253, HG00132, HG02731, HG03711, HG01768, HG03900, HG01498, HG03775, HG00275, NA12718, HG01323, HG04177, HG02878, HG00239, HG01630, NA20876, HG04235, HG03823, HG01047, HG00284, HG00250, HG01536, HG00350, NA20581, NA12829, NA11893, HG02787, HG00331, NA21112, NA11840, HG04173, HG02657, HG01613, NA19750, HG03631, NA06989, HG00140, HG03953, HG03024, HG01497, HG01334, HG01474, NA19452, NA19682, HG03006, HG04159, HG01572, HG01625, NA12043, HG03720, HG02660, HG03598, NA21117, HG00254, HG00265, HG04006, NA19712, HG00353, NA12272, HG03695, HG03692, HG01551, NA12873, HG01939, HG01357, HG01174, NA21123, NA20527, HG00473, HG00237, NA20902, HG03870, HG00116, HG02580, NA12763, HG01342, HG03973, HG03779, HG00339, HG01785, HG01086, NA20897, HG02694, HG04140, HG00381, NA20847, NA21102, HG02235, HG00267, HG01302, NA20852, HG00310, NA20786, HG01631, NA19770, HG00280, NA11843, HG02291, HG01468, HG02774, HG01479, NA20502, NA12154, HG04153, HG03867, HG01786, NA20754, HG01437, HG03741, NA20874, HG01413, NA19648, NA11830, NA21097, HG02652, HG00121, HG01054, HG00231, HG01303, NA11829, HG02298, HG01773, HG01359, HG01348, HG01052, HG00100, NA20274, HG01586, HG01188, NA20531, HG03015, HG01374, HG00306, NA20813, HG00318, NA19795, HG04094, HG01465, HG03668, HG01686, HG00364, HG03963, NA21115, NA12058, HG04164, HG02271, NA20507, NA19669, NA12400, NA12155, NA12413, HG01924, HG00327, HG01250, HG01341, HG00127, NA20796, NA12812, HG00251, HG01682, HG03640, HG03757, HG01779, HG01997, HG00173, NA19723, HG03937, HG04144, HG01459, HG00330, NA12348, NA19649, HG00346, NA19771, NA12287, HG00369, HG01510, HG03762, HG01242, HG03793, NA12761, HG01134, NA12005, HG03826, HG02493, HG01398, HG01067, HG00120, HG03986, HG03968, HG02003, HG00106, NA20819, HG02224, HG01628, HG01757, HG01495, NA20340, HG01767, HG01369, HG03624, HG03777, NA21107, NA12889, HG01440, HG01259, NA20845, NA20884, NA19725, HG00637, HG00159, NA20764, HG04029, NA19451, HG00264, NA12748, HG00108, HG03862, HG01603, NA20818, NA10847, HG01139, HG00290, HG00188, HG00149, HG03902, HG03780, HG01187, NA20787, NA20524, HG03787, HG01247, NA20505, NA12003, HG03760, HG01790, HG00190, HG01271, NA20536, HG01088, HG01880, HG03919, NA20770, HG02555, HG01390, HG01777, HG01615, HG03871, HG00373, NA21141, HG02494, NA12249, HG01791, HG00321, HG00157, NA19320, NA12827, HG03634, HG02292, HG00276, HG01403, HG00141, NA21142, HG02484, HG01700, HG01530, NA21143, NA21087, NA20522, HG03833, NA12716, NA11881, HG03240, HG00357, HG01253, NA19773, NA07051, NA12046, HG01623, HG00308, HG03488, HG01205, NA20504, HG01260, HG03846, HG00319, NA20516, HG04090, HG03019, HG00269, HG00107, NA19818, HG01395, HG00111, HG04015, NA21088, HG03646, HG02238, HG02230, HG01556, HG00378, HG03863, HG01783, HG00174, NA12830, HG04209, HG02239, HG00234, HG00131, HG00343, HG01251, HG01377, NA07056, HG03882, HG01082, HG02425, NA20763, HG04161, HG01672, HG01112, HG03698, HG01578, HG01583, HG01061, HG00362, HG03886, HG01747
Known GenesGRIN2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628638
Frequency
Sample Size2504
Observed Gain0
Observed Loss434
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer