A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628357



Internal ID6668500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4279551..4280500hg38UCSC Ensembl
Innerchr12:4279701..4280350hg38UCSC Ensembl
Outerchr12:4279401..4280650hg38UCSC Ensembl
chr12:4388717..4389666hg19UCSC Ensembl
Innerchr12:4388867..4389516hg19UCSC Ensembl
Outerchr12:4388567..4389816hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14340718, essv14340542, essv14340743, essv14340568, essv14340636, essv14340545, essv14340585, essv14340527, essv14340759, essv14340748, essv14340622, essv14340705, essv14340605, essv14340771, essv14340533, essv14340511, essv14340548, essv14340684, essv14340505, essv14340665, essv14340758, essv14340502, essv14340674, essv14340607, essv14340514, essv14340581, essv14340566, essv14340609, essv14340562, essv14340532, essv14340584, essv14340570, essv14340503, essv14340645, essv14340693, essv14340679, essv14340715, essv14340724, essv14340576, essv14340621, essv14340632, essv14340658, essv14340719, essv14340537, essv14340611, essv14340626, essv14340720, essv14340727, essv14340656, essv14340700, essv14340723, essv14340739, essv14340655, essv14340725, essv14340662, essv14340764, essv14340541, essv14340550, essv14340500, essv14340563, essv14340510, essv14340535, essv14340613, essv14340586, essv14340641, essv14340639, essv14340752, essv14340614, essv14340559, essv14340501, essv14340762, essv14340552, essv14340755, essv14340747, essv14340751, essv14340575, essv14340648, essv14340653, essv14340690, essv14340526, essv14340600, essv14340508, essv14340544, essv14340688, essv14340547, essv14340652, essv14340534, essv14340629, essv14340729, essv14340498, essv14340753, essv14340504, essv14340560, essv14340524, essv14340520, essv14340553, essv14340569, essv14340749, essv14340577, essv14340603, essv14340539, essv14340630, essv14340696, essv14340549, essv14340683, essv14340638, essv14340666, essv14340606, essv14340625, essv14340716, essv14340619, essv14340578, essv14340517, essv14340734, essv14340668, essv14340513, essv14340649, essv14340595, essv14340677, essv14340728, essv14340685, essv14340628, essv14340557, essv14340646, essv14340604, essv14340627, essv14340735, essv14340594, essv14340597, essv14340620, essv14340773, essv14340687, essv14340530, essv14340691, essv14340522, essv14340756, essv14340707, essv14340635, essv14340572, essv14340617, essv14340507, essv14340714, essv14340760, essv14340736, essv14340580, essv14340610, essv14340593, essv14340591, essv14340713, essv14340772, essv14340516, essv14340731, essv14340766, essv14340521, essv14340726, essv14340654, essv14340732, essv14340738, essv14340692, essv14340710, essv14340730, essv14340509, essv14340644, essv14340661, essv14340499, essv14340642, essv14340565, essv14340624, essv14340631, essv14340647, essv14340706, essv14340694, essv14340695, essv14340601, essv14340518, essv14340672, essv14340669, essv14340717, essv14340634, essv14340697, essv14340708, essv14340523, essv14340678, essv14340587, essv14340681, essv14340515, essv14340540, essv14340711, essv14340612, essv14340702, essv14340765, essv14340551, essv14340657, essv14340770, essv14340768, essv14340667, essv14340554, essv14340592, essv14340733, essv14340670, essv14340599, essv14340703, essv14340682, essv14340761, essv14340640, essv14340637, essv14340512, essv14340598, essv14340659, essv14340525, essv14340744, essv14340769, essv14340712, essv14340618, essv14340741, essv14340660, essv14340745, essv14340506, essv14340623, essv14340602, essv14340643, essv14340676, essv14340689, essv14340699, essv14340767, essv14340555, essv14340582, essv14340737, essv14340650, essv14340546, essv14340664, essv14340673, essv14340556, essv14340529, essv14340588, essv14340722, essv14340754, essv14340543, essv14340704, essv14340567, essv14340680, essv14340763, essv14340616, essv14340651, essv14340538, essv14340571, essv14340536, essv14340519, essv14340709, essv14340742, essv14340589, essv14340564, essv14340663, essv14340701, essv14340596, essv14340633, essv14340757, essv14340590, essv14340675, essv14340558, essv14340615, essv14340608, essv14340698, essv14340721, essv14340750, essv14340686, essv14340561, essv14340531, essv14340579, essv14340574, essv14340583, essv14340671, essv14340740, essv14340573, essv14340746, essv14340528
SamplesHG02140, HG00613, HG01878, HG02107, HG03015, HG03705, HG02166, HG03760, NA18595, HG02649, HG00619, HG01811, HG03729, HG03985, NA18561, NA19404, HG00129, HG03744, HG00705, HG01873, NA18966, NA21114, HG02407, HG01859, HG01882, NA18612, HG00464, NA18501, HG03874, HG01858, HG02549, HG03741, HG01849, HG02513, HG02734, HG04096, NA18639, NA18603, HG02139, HG00463, HG02943, HG00657, HG03969, HG00614, HG01850, HG04090, HG02048, NA21133, HG04026, NA21124, HG03829, NA18947, HG03653, NA20321, HG02029, NA18542, HG02379, NA18541, HG02375, HG02694, HG04118, NA20900, HG00698, HG02389, NA18994, HG01029, HG04001, HG03967, HG04180, NA20763, HG01861, HG04214, HG03928, HG03960, HG02685, HG03949, HG04152, HG02433, HG03808, HG03947, HG04140, NA18943, HG03863, NA18626, NA18632, HG00266, NA19077, HG02402, HG04238, NA18559, HG04219, HG00556, HG02390, NA20856, NA18979, NA20885, NA18627, HG02654, HG00421, HG03779, NA19057, NA20811, HG02121, NA18536, NA18622, NA18618, HG02142, NA20504, HG03686, NA19722, HG00610, HG01061, NA18641, NA18990, HG00692, HG01495, HG02658, NA18991, HG03898, HG03911, HG04198, NA18636, HG03770, HG03926, NA18876, HG01396, NA18959, HG00150, HG01556, NA18609, NA20882, HG00419, NA18547, NA18976, HG02028, NA18637, HG00451, HG04222, HG00634, HG03604, HG03917, HG04063, HG00254, HG03864, NA19679, HG03595, HG00407, NA18643, NA19086, NA20589, HG03971, NA18539, HG03895, HG01497, HG00436, HG02058, HG03869, HG02236, HG03773, NA21122, HG00267, HG00620, HG03786, NA21143, NA18645, HG00653, NA18954, NA21128, NA20126, HG03995, NA06985, NA18939, HG00629, HG03914, HG03870, NA20910, NA19005, NA18558, NA18977, HG03931, NA18749, HG04062, HG02429, NA20878, HG03788, HG02087, NA20542, HG02364, HG00105, HG00525, NA18562, HG01894, NA18579, HG00729, HG03228, HG03692, HG02180, HG02690, HG02085, HG02374, NA18543, NA18940, NA18619, NA18987, HG01566, HG01809, HG03691, HG02491, HG00443, HG02067, NA18599, HG00611, HG03789, HG02182, NA20827, HG02238, HG02134, HG03694, NA18565, HG03771, NA21109, HG02035, NA18989, NA18544, HG03815, NA18602, HG02186, HG00654, HG02079, HG03905, HG03708, NA20513, HG03594, HG04039, HG01593, HG00238, HG00422, HG01855, HG03718, NA18610, HG02353, NA18611, HG02522, HG03830, HG03838, HG03850, HG03802, NA18574, HG00442, HG00473, NA18981, NA19079, HG04171, HG02784, HG03720, HG00476, HG03826, NA20772, HG01869, HG02064, HG03907, HG03490, HG03991, NA19065, NA20899, NA12775, NA18553, HG01870, HG03963, NA12718, HG01813, HG00734, HG04146, NA12750, HG02165, HG02184
Known GenesCCND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628357
Frequency
Sample Size2504
Observed Gain0
Observed Loss276
Observed Complex0
Frequencyn/a


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