A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589530



Internal ID6976858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247991199..247992286hg38UCSC Ensembl
Innerchr1:247991199..247992286hg38UCSC Ensembl
Outerchr1:247990789..247992591hg38UCSC Ensembl
chr1:248154501..248155588hg19UCSC Ensembl
Innerchr1:248154501..248155588hg19UCSC Ensembl
Outerchr1:248154091..248155893hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10374719, essv10374612, essv10374614, essv10374605, essv10374455, essv10374785, essv10374564, essv10374730, essv10374415, essv10374636, essv10374592, essv10374772, essv10374776, essv10374497, essv10374679, essv10374554, essv10374447, essv10374759, essv10374761, essv10374603, essv10374659, essv10374621, essv10374401, essv10374762, essv10374755, essv10374468, essv10374779, essv10374717, essv10374587, essv10374577, essv10374380, essv10374699, essv10374619, essv10374588, essv10374457, essv10374399, essv10374752, essv10374734, essv10374520, essv10374502, essv10374693, essv10374383, essv10374660, essv10374352, essv10374792, essv10374646, essv10374579, essv10374360, essv10374410, essv10374574, essv10374355, essv10374781, essv10374711, essv10374418, essv10374486, essv10374472, essv10374731, essv10374374, essv10374393, essv10374481, essv10374635, essv10374378, essv10374606, essv10374773, essv10374766, essv10374640, essv10374666, essv10374631, essv10374392, essv10374791, essv10374385, essv10374591, essv10374632, essv10374634, essv10374475, essv10374354, essv10374698, essv10374589, essv10374446, essv10374397, essv10374739, essv10374794, essv10374683, essv10374473, essv10374790, essv10374566, essv10374651, essv10374544, essv10374494, essv10374487, essv10374748, essv10374692, essv10374593, essv10374422, essv10374389, essv10374751, essv10374599, essv10374470, essv10374365, essv10374513, essv10374454, essv10374368, essv10374749, essv10374673, essv10374586, essv10374531, essv10374765, essv10374601, essv10374633, essv10374442, essv10374403, essv10374648, essv10374777, essv10374364, essv10374402, essv10374411, essv10374721, essv10374769, essv10374597, essv10374799, essv10374803, essv10374445, essv10374727, essv10374712, essv10374413, essv10374408, essv10374780, essv10374704, essv10374701, essv10374377, essv10374560, essv10374451, essv10374527, essv10374496, essv10374688, essv10374661, essv10374670, essv10374669, essv10374707, essv10374705, essv10374516, essv10374558, essv10374358, essv10374668, essv10374395, essv10374656, essv10374674, essv10374596, essv10374498, essv10374611, essv10374729, essv10374416, essv10374690, essv10374557, essv10374608, essv10374533, essv10374663, essv10374406, essv10374376, essv10374733, essv10374602, essv10374714, essv10374553, essv10374456, essv10374665, essv10374491, essv10374437, essv10374510, essv10374434, essv10374575, essv10374798, essv10374573, essv10374617, essv10374590, essv10374492, essv10374722, essv10374521, essv10374503, essv10374464, essv10374465, essv10374353, essv10374462, essv10374551, essv10374458, essv10374737, essv10374444, essv10374375, essv10374461, essv10374443, essv10374435, essv10374789, essv10374550, essv10374490, essv10374774, essv10374657, essv10374488, essv10374680, essv10374412, essv10374697, essv10374534, essv10374691, essv10374482, essv10374493, essv10374754, essv10374580, essv10374788, essv10374581, essv10374742, essv10374764, essv10374535, essv10374709, essv10374512, essv10374500, essv10374384, essv10374723, essv10374638, essv10374362, essv10374650, essv10374398, essv10374532, essv10374400, essv10374382, essv10374795, essv10374624, essv10374427, essv10374363, essv10374658, essv10374627, essv10374655, essv10374775, essv10374735, essv10374677, essv10374654, essv10374480, essv10374511, essv10374479, essv10374594, essv10374539, essv10374639, essv10374630, essv10374613, essv10374547, essv10374439, essv10374610, essv10374609, essv10374783, essv10374417, essv10374689, essv10374421, essv10374716, essv10374681, essv10374607, essv10374549, essv10374430, essv10374706, essv10374582, essv10374568, essv10374543, essv10374763, essv10374623, essv10374618, essv10374508, essv10374463, essv10374467, essv10374541, essv10374615, essv10374578, essv10374390, essv10374732, essv10374687, essv10374552, essv10374710, essv10374662, essv10374800, essv10374767, essv10374471, essv10374570, essv10374495, essv10374629, essv10374474, essv10374425, essv10374499, essv10374696, essv10374702, essv10374647, essv10374429, essv10374559, essv10374526, essv10374667, essv10374584, essv10374367, essv10374756, essv10374625, essv10374436, essv10374555, essv10374537, essv10374386, essv10374478, essv10374450, essv10374565, essv10374796, essv10374598, essv10374522, essv10374616, essv10374718, essv10374572, essv10374562, essv10374428, essv10374466, essv10374736, essv10374563, essv10374438, essv10374561, essv10374628, essv10374694, essv10374476, essv10374388, essv10374746, essv10374645, essv10374604, essv10374576, essv10374518, essv10374760, essv10374644, essv10374750, essv10374726, essv10374686, essv10374626, essv10374506, essv10374420, essv10374797, essv10374770, essv10374431, essv10374546, essv10374433, essv10374530, essv10374637, essv10374424, essv10374519, essv10374441, essv10374675, essv10374369, essv10374509, essv10374740, essv10374387, essv10374793, essv10374778, essv10374744, essv10374643, essv10374676, essv10374724, essv10374483, essv10374469, essv10374653, essv10374372, essv10374708, essv10374452, essv10374448, essv10374524, essv10374542, essv10374671, essv10374351, essv10374371, essv10374642, essv10374715, essv10374747, essv10374595, essv10374405, essv10374359, essv10374700, essv10374517, essv10374485, essv10374672, essv10374536, essv10374556, essv10374782, essv10374684, essv10374713, essv10374741, essv10374504, essv10374523, essv10374768, essv10374757, essv10374459, essv10374507, essv10374703, essv10374514, essv10374489, essv10374414, essv10374409, essv10374545, essv10374728, essv10374449, essv10374786, essv10374567, essv10374423, essv10374419, essv10374373, essv10374745, essv10374725, essv10374426, essv10374802, essv10374528, essv10374381, essv10374569, essv10374407, essv10374600, essv10374649, essv10374548, essv10374501, essv10374394, essv10374652, essv10374484, essv10374720, essv10374540, essv10374370, essv10374784, essv10374753, essv10374685, essv10374571, essv10374525, essv10374349, essv10374583, essv10374515, essv10374440, essv10374379, essv10374771, essv10374738, essv10374538, essv10374350, essv10374622, essv10374620, essv10374366, essv10374357, essv10374695, essv10374682, essv10374477, essv10374641, essv10374460, essv10374453, essv10374801, essv10374396, essv10374529, essv10374391, essv10374361, essv10374432, essv10374787, essv10374678, essv10374404, essv10374804, essv10374585, essv10374743, essv10374505, essv10374758, essv10374664, essv10374356
SamplesHG01608, HG01985, NA18502, HG00189, HG00442, NA20891, NA12843, HG03717, HG00151, HG00729, HG02050, HG03295, NA18530, HG03515, HG02154, NA20359, HG02769, NA19067, HG00337, NA12813, NA19446, NA19171, NA19315, HG03722, HG02840, NA18993, NA18558, HG00129, NA18574, NA11918, HG00537, NA19079, HG01859, NA20759, HG03520, HG02634, HG02597, HG03212, HG02588, HG02178, HG04047, HG01771, NA19789, HG02479, HG02943, HG02793, HG02380, HG00657, HG02084, HG00344, NA19081, HG03159, HG02014, NA18572, NA18948, NA18981, NA19064, HG01762, NA19084, HG00404, NA18532, HG02256, HG00463, NA18531, HG02635, HG02219, NA19395, NA18593, HG01107, HG02772, HG03875, NA19454, NA20870, HG03920, HG03458, NA19010, HG03702, HG01866, HG01620, NA19083, NA18943, NA19360, NA12763, NA19117, HG00614, HG00478, HG02367, NA18609, HG04098, HG02182, HG04171, HG02348, HG01794, NA19121, HG00595, HG01756, HG00628, HG03198, NA19065, HG02406, NA18577, HG03265, HG03271, HG02760, NA18998, HG01413, NA19466, NA18561, HG01188, NA18599, HG03015, HG00699, NA12004, HG02058, NA18625, HG02394, NA19669, HG03577, NA19190, NA19098, NA18526, NA18962, HG01250, NA18550, HG03757, HG02407, NA18595, HG02087, NA18635, NA20900, HG02620, HG00458, HG00330, HG02549, HG02854, HG03246, NA19023, NA19054, HG00590, HG03868, NA19651, HG02395, HG02315, NA18560, HG01527, HG03746, HG01046, NA19075, NA18617, HG02471, NA19087, NA19159, HG02946, NA19209, HG00178, NA18973, HG00530, HG00419, HG00464, HG03709, HG00543, HG00149, NA19247, HG00629, HG03160, HG01360, HG01797, NA12342, HG02334, NA19077, HG03760, HG00475, NA19982, HG02953, HG02307, NA21118, NA18976, HG02976, HG03294, HG03563, HG00110, HG02604, HG04155, HG01241, NA20881, NA18946, NA19160, HG01990, HG01700, HG03567, NA20296, HG00476, NA18543, HG03461, HG02759, NA12775, HG02501, HG00565, NA18950, HG01800, NA20351, HG00607, NA19310, HG02814, HG03681, HG02181, NA19818, NA19323, HG00672, NA19438, HG01028, HG02646, HG02032, HG01783, HG00174, HG04209, NA18552, HG01883, HG00372, HG00252, NA18984, NA18505, NA19004, HG01863, HG02808, HG02343, HG00437, NA20882, HG01412, HG04096, HG00143, NA19909, NA18861, NA20514, HG01066, HG00457, NA18639, HG03298, NA18959, HG00449, HG02589, HG00654, HG03999, NA18510, NA18988, HG03009, HG01513, HG00271, HG02621, NA19319, HG02185, HG03452, HG00674, HG03342, NA07347, HG03224, HG00451, NA19904, HG02816, NA19041, NA20518, HG00325, HG02187, NA19207, HG04020, HG02190, HG00118, HG02427, HG01844, HG02545, HG03394, HG02477, NA18539, HG02716, HG02047, HG03343, HG00154, HG00443, NA19091, HG00282, NA19006, HG00332, HG01789, NA19086, HG02678, HG01882, HG03457, HG00583, HG00263, NA18579, HG01345, HG01077, HG00324, HG00284, HG03472, NA19461, NA11919, HG02429, HG00651, NA18626, HG01536, HG02577, HG02657, HG02309, HG03643, NA18963, HG01956, NA18541, HG03653, HG03238, HG01812, HG02089, HG00383, HG00625, NA20276, NA20362, NA19835, HG02982, HG02179, NA20544, NA18610, HG04140, HG00342, NA18636, HG01600, NA19711, NA19430, NA18957, NA19316, NA19312, NA18968, NA18740, HG03303, HG01805, NA20908, NA20754, NA19346, HG03096, NA19141, NA21097, HG03163, HG02433, HG02337, HG03190, HG03100, HG03518, NA19314, HG03836, HG02895, HG01694, HG03074, HG03082, HG03464, HG00127, NA19005, NA18944, HG02810, HG03490, NA19119, NA18982, NA19198, NA20317, NA18619, HG03485, HG00851, NA18964, HG02111, HG03079, NA20910, NA18611, HG04214, HG00379, NA18874, HG03268, NA06984, HG02573, NA19917, NA19137, NA19385, HG01405, NA21107, NA19901, HG02180, NA18640, HG02715, NA19200, HG03270, HG01312, HG01353, HG00290, NA19210, HG02233, HG01247, HG02152, HG00653, HG03547, HG00701, HG04107, HG03291, NA19913, NA18939, HG00436, HG03428, HG00533, HG01989, HG04019, HG01808, HG00619, HG03124, HG00708, NA18757, HG03021, HG01390, HG03871, HG03476, NA11894, NA20538, NA19113, HG03974, HG01791, HG02086, HG00157, NA19320, HG02184, HG02585, HG01890, HG02031, HG03755, HG03354, NA19095, NA18945, HG00285, NA18961, NA19037, NA18941, NA20804, NA19144, NA19439, HG02839, HG01933, HG02139, NA12874, NA20357, HG00371, NA19060, HG00123, HG02679, HG00234, HG02051, HG02028, NA18488, HG03118, NA18622, NA18562, NA18965, HG03886
Known GenesOR2L13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589530
Frequency
Sample Size2504
Observed Gain0
Observed Loss456
Observed Complex0
Frequencyn/a


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