A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628941



Internal ID6669081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27495241..27502269hg38UCSC Ensembl
chr12:27648174..27655202hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387029
hg197029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14417633, essv14417703, essv14417804, essv14417740, essv14417727, essv14417739, essv14417721, essv14417809, essv14417742, essv14417798, essv14417695, essv14417672, essv14417694, essv14417600, essv14417781, essv14417711, essv14417715, essv14417748, essv14417653, essv14417787, essv14417797, essv14417634, essv14417645, essv14417664, essv14417752, essv14417729, essv14417737, essv14417745, essv14417771, essv14417788, essv14417612, essv14417630, essv14417718, essv14417610, essv14417719, essv14417751, essv14417784, essv14417698, essv14417683, essv14417696, essv14417594, essv14417759, essv14417678, essv14417713, essv14417660, essv14417655, essv14417730, essv14417693, essv14417609, essv14417706, essv14417763, essv14417593, essv14417632, essv14417782, essv14417756, essv14417644, essv14417794, essv14417624, essv14417642, essv14417606, essv14417620, essv14417647, essv14417770, essv14417657, essv14417776, essv14417807, essv14417685, essv14417596, essv14417691, essv14417716, essv14417626, essv14417628, essv14417652, essv14417665, essv14417656, essv14417649, essv14417717, essv14417613, essv14417602, essv14417778, essv14417741, essv14417674, essv14417625, essv14417709, essv14417635, essv14417658, essv14417757, essv14417792, essv14417806, essv14417601, essv14417777, essv14417643, essv14417783, essv14417697, essv14417728, essv14417766, essv14417808, essv14417621, essv14417623, essv14417604, essv14417622, essv14417791, essv14417738, essv14417705, essv14417747, essv14417811, essv14417746, essv14417676, essv14417780, essv14417723, essv14417598, essv14417692, essv14417722, essv14417812, essv14417684, essv14417758, essv14417616, essv14417669, essv14417754, essv14417639, essv14417591, essv14417803, essv14417743, essv14417772, essv14417646, essv14417687, essv14417800, essv14417744, essv14417796, essv14417614, essv14417659, essv14417720, essv14417810, essv14417707, essv14417779, essv14417597, essv14417608, essv14417629, essv14417640, essv14417699, essv14417670, essv14417681, essv14417714, essv14417753, essv14417764, essv14417795, essv14417774, essv14417680, essv14417648, essv14417603, essv14417611, essv14417618, essv14417682, essv14417592, essv14417638, essv14417636, essv14417627, essv14417725, essv14417732, essv14417702, essv14417762, essv14417735, essv14417813, essv14417651, essv14417790, essv14417786, essv14417679, essv14417690, essv14417650, essv14417675, essv14417801, essv14417607, essv14417663, essv14417799, essv14417688, essv14417686, essv14417677, essv14417775, essv14417749, essv14417710, essv14417661, essv14417668, essv14417666, essv14417712, essv14417734, essv14417761, essv14417701, essv14417789, essv14417667, essv14417654, essv14417673, essv14417615, essv14417750, essv14417785, essv14417773, essv14417605, essv14417733, essv14417767, essv14417805, essv14417599, essv14417760, essv14417793, essv14417724, essv14417731, essv14417802, essv14417617, essv14417641, essv14417755, essv14417662, essv14417726, essv14417631, essv14417704, essv14417689, essv14417619, essv14417708, essv14417637, essv14417671, essv14417736, essv14417769, essv14417700, essv14417768, essv14417765, essv14417595
SamplesHG03136, HG03370, NA20281, HG02890, HG03821, HG02496, HG03135, NA12154, HG03121, NA19152, HG03120, HG03598, HG03015, NA21142, HG02810, NA19031, NA19712, HG02675, HG02649, NA20522, NA20890, HG02398, NA19819, NA21110, HG00551, NA18933, HG00145, HG02661, NA18874, HG03478, HG03856, HG01444, HG02284, HG03410, HG00131, NA20544, HG02734, NA19023, HG02223, HG03301, HG03643, HG03189, HG03057, HG04056, NA18516, HG03419, HG03709, NA19331, HG03469, NA18517, HG02722, HG02885, HG01915, HG01883, NA19920, NA20778, HG01049, HG02977, NA19144, HG03294, HG03103, HG03585, HG02817, HG03548, NA19651, HG04002, NA20763, NA19257, NA19108, NA19701, HG03378, HG04023, HG03488, HG02976, HG02583, HG03572, NA19308, HG03457, HG04061, NA19037, HG02811, NA19143, NA20340, HG02870, HG02895, HG02585, HG03162, HG02053, NA20761, NA20896, HG03461, NA18934, NA19239, HG03193, HG03235, NA20819, HG02462, NA12004, HG02009, NA19917, HG02716, HG04164, NA19197, HG02554, HG02568, HG01122, HG02577, NA19011, HG02968, HG03442, HG01047, HG04198, NA20127, HG03241, HG03052, HG01556, NA19256, HG01161, NA18916, HG03027, NA19036, NA12777, HG03971, HG04185, HG03895, HG02941, HG03063, NA19676, NA19360, HG03085, HG02442, HG02325, HG02878, HG02185, HG02054, NA19703, HG03209, HG03397, NA19375, NA20126, HG01989, NA18986, NA21112, NA20822, HG00099, HG02807, HG02017, HG04239, HG01069, HG01786, HG02651, HG03788, HG03073, HG03433, NA20766, NA21092, HG03022, HG03823, HG03577, HG03978, NA19789, HG03943, NA19141, HG01880, HG02339, HG02582, HG03132, HG04235, HG03224, HG02235, NA19035, HG03772, HG01626, HG02182, HG01939, HG01632, HG01953, HG03246, NA19764, HG03913, HG03716, NA12889, HG00262, HG01303, NA20298, NA20287, NA19446, HG01390, HG03123, NA20513, NA12003, NA20810, HG02489, NA19041, NA19225, HG03074, NA18917, HG01886, HG03259, NA19160, HG03258, NA19315, NA20792, NA11829, HG04189, NA19171, HG01374, HG02798, NA19113, HG02315, HG02813, HG03515, HG04171, HG02784, HG03826, NA19092, NA19468, HG01890, HG02860, HG03824, HG03950, NA19922, HG02253
Known GenesSMCO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628941
Frequency
Sample Size2504
Observed Gain0
Observed Loss223
Observed Complex0
Frequencyn/a


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