A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628274



Internal ID6668417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1256416..1257208hg38UCSC Ensembl
Innerchr12:1256417..1257208hg38UCSC Ensembl
Outerchr12:1256416..1257209hg38UCSC Ensembl
chr12:1365582..1366374hg19UCSC Ensembl
Innerchr12:1365583..1366374hg19UCSC Ensembl
Outerchr12:1365582..1366375hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14333565, essv14333524, essv14333582, essv14333507, essv14333535, essv14333718, essv14333452, essv14333644, essv14333567, essv14333583, essv14333692, essv14333438, essv14333704, essv14333624, essv14333471, essv14333628, essv14333648, essv14333455, essv14333589, essv14333615, essv14333431, essv14333690, essv14333666, essv14333682, essv14333448, essv14333542, essv14333522, essv14333492, essv14333529, essv14333450, essv14333725, essv14333432, essv14333472, essv14333460, essv14333597, essv14333678, essv14333706, essv14333478, essv14333514, essv14333609, essv14333661, essv14333681, essv14333489, essv14333479, essv14333645, essv14333700, essv14333620, essv14333705, essv14333502, essv14333447, essv14333669, essv14333496, essv14333508, essv14333534, essv14333630, essv14333664, essv14333545, essv14333437, essv14333556, essv14333625, essv14333606, essv14333636, essv14333603, essv14333621, essv14333638, essv14333543, essv14333486, essv14333498, essv14333523, essv14333590, essv14333592, essv14333584, essv14333596, essv14333594, essv14333468, essv14333639, essv14333469, essv14333616, essv14333546, essv14333633, essv14333677, essv14333550, essv14333659, essv14333622, essv14333549, essv14333575, essv14333650, essv14333495, essv14333574, essv14333696, essv14333617, essv14333719, essv14333510, essv14333588, essv14333517, essv14333474, essv14333466, essv14333612, essv14333683, essv14333701, essv14333475, essv14333536, essv14333642, essv14333717, essv14333570, essv14333577, essv14333653, essv14333665, essv14333608, essv14333668, essv14333476, essv14333660, essv14333580, essv14333688, essv14333453, essv14333512, essv14333470, essv14333675, essv14333441, essv14333467, essv14333481, essv14333482, essv14333446, essv14333458, essv14333464, essv14333506, essv14333497, essv14333462, essv14333712, essv14333599, essv14333693, essv14333552, essv14333500, essv14333537, essv14333685, essv14333703, essv14333657, essv14333676, essv14333679, essv14333655, essv14333698, essv14333557, essv14333610, essv14333629, essv14333527, essv14333573, essv14333442, essv14333491, essv14333720, essv14333581, essv14333714, essv14333465, essv14333518, essv14333641, essv14333548, essv14333443, essv14333699, essv14333566, essv14333593, essv14333695, essv14333708, essv14333619, essv14333520, essv14333562, essv14333487, essv14333511, essv14333627, essv14333711, essv14333445, essv14333576, essv14333710, essv14333440, essv14333519, essv14333504, essv14333568, essv14333515, essv14333613, essv14333656, essv14333723, essv14333505, essv14333454, essv14333531, essv14333477, essv14333694, essv14333554, essv14333662, essv14333634, essv14333643, essv14333674, essv14333601, essv14333697, essv14333433, essv14333640, essv14333509, essv14333637, essv14333538, essv14333585, essv14333670, essv14333434, essv14333533, essv14333572, essv14333526, essv14333600, essv14333595, essv14333587, essv14333702, essv14333591, essv14333560, essv14333722, essv14333559, essv14333654, essv14333672, essv14333488, essv14333528, essv14333724, essv14333709, essv14333480, essv14333571, essv14333646, essv14333564, essv14333547, essv14333483, essv14333602, essv14333525, essv14333501, essv14333561, essv14333663, essv14333632, essv14333614, essv14333532, essv14333689, essv14333484, essv14333430, essv14333451, essv14333530, essv14333563, essv14333631, essv14333499, essv14333521, essv14333551, essv14333578, essv14333439, essv14333558, essv14333473, essv14333444, essv14333691, essv14333707, essv14333604, essv14333436, essv14333457, essv14333513, essv14333651, essv14333715, essv14333490, essv14333494, essv14333503, essv14333686, essv14333459, essv14333605, essv14333539, essv14333463, essv14333449, essv14333607, essv14333623, essv14333658, essv14333626, essv14333652, essv14333618, essv14333647, essv14333684, essv14333456, essv14333540, essv14333569, essv14333598, essv14333713, essv14333586, essv14333687, essv14333541, essv14333673, essv14333671, essv14333579, essv14333461, essv14333485, essv14333544, essv14333435, essv14333553, essv14333716, essv14333667, essv14333635, essv14333680, essv14333721, essv14333516, essv14333611, essv14333649, essv14333555, essv14333493
SamplesHG01878, NA18621, HG03135, HG00864, HG02854, NA19904, HG01852, NA18535, HG01988, NA19437, HG03886, HG01882, HG00171, HG03563, NA18757, HG00131, HG02334, HG02060, HG01794, HG02223, HG01054, NA19223, NA19455, NA18639, HG01079, HG01845, HG02152, HG01389, HG02139, HG02943, HG03896, HG02014, NA18591, HG04026, HG03046, NA18953, NA19451, HG02722, HG03311, HG01491, HG01524, NA18608, NA20778, HG03048, HG00139, HG00446, NA18546, HG01167, HG02471, HG00683, HG02389, HG01958, HG00187, HG02817, HG03491, HG03538, HG03967, HG04180, HG03229, NA19257, NA19108, HG03928, HG04020, HG03916, HG01871, HG04152, HG02583, HG03039, NA19472, HG02805, HG01171, HG03863, NA18949, NA19438, HG02811, HG02895, HG03836, HG02982, NA19077, NA20320, NA19028, HG04219, NA20856, NA18912, NA20885, HG02634, HG02699, HG03235, HG03575, HG03736, NA18627, NA20819, HG00593, HG01375, HG01028, HG01414, HG00406, HG02009, HG03882, HG02716, NA18622, HG02050, NA19471, NA20757, HG01595, HG02968, HG03774, HG00728, HG02772, HG03624, NA18990, HG00692, HG01183, HG03681, NA18636, HG01124, HG03770, HG03926, HG02385, NA20127, HG02643, HG03844, HG03007, HG03805, NA20882, HG03130, HG03583, HG01360, HG02220, HG03024, HG03539, HG04099, HG00451, HG02521, HG03917, NA19681, HG03864, NA19056, NA19457, HG03595, NA21094, HG01247, HG04227, HG03971, HG03722, HG02757, HG00742, HG03169, NA18620, HG03190, NA18525, NA18633, HG03792, NA19374, NA19703, HG02285, NA20795, HG03754, HG03472, NA20822, HG01853, NA18558, HG03931, NA18941, HG04080, HG03849, HG02429, HG02611, HG01069, NA18504, HG00478, HG03800, HG00513, HG03428, HG04212, HG02502, HG02307, NA18562, NA19074, NA21092, NA21095, HG02479, HG03297, NA19318, HG00729, NA19141, HG00674, HG01880, HG02026, HG02881, HG02406, HG02570, HG03132, HG04235, NA18543, NA20858, HG01779, HG03028, NA10851, HG01757, HG04155, HG02128, HG02819, NA19035, NA19391, NA19723, HG01971, HG03499, HG03009, HG04047, HG02688, HG03061, HG03986, HG03913, NA18646, NA19116, HG00262, NA21087, HG01303, HG02035, NA20287, HG01669, HG00654, HG01390, HG02561, NA19452, HG00530, HG03476, HG01783, HG02589, HG02837, NA18944, HG00235, HG03259, HG00656, HG01366, NA18499, HG01951, NA20758, HG00623, HG03449, HG03814, HG01177, HG02522, HG04189, HG03557, HG03271, NA18532, NA18549, NA21105, NA19113, HG04171, HG02574, HG02505, HG00622, HG00671, HG03826, HG00345, HG00704, HG01869, HG02860, HG04195, NA18555, HG02130, HG02774, NA18519, HG02367, NA19466, NA18629, HG03095, HG03937, HG02610, HG01864, HG02691, HG02715, HG02580, HG02890, NA19913, HG03698, HG00536, HG00607, HG01612, HG01817, NA20866, HG00100, HG03977, NA18561, HG03342, HG04202, HG02023, HG01342, NA20906, NA21123, NA18612, HG02284, HG03304
Known GenesERC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628274
Frequency
Sample Size2504
Observed Gain0
Observed Loss296
Observed Complex0
Frequencyn/a


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