A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670996



Internal ID9590415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124564570..124569076hg38UCSC Ensembl
Outerchr12:124564099..124569646hg38UCSC Ensembl
Innerchr12:125049116..125053622hg19UCSC Ensembl
Outerchr12:125048645..125054192hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6407876, essv6366598, essv6082906, essv5482053, essv5574448, essv5562835, essv5744486, essv6545705, essv5454935, essv6115235, essv6188241, essv5503663, essv6302132, essv6111744, essv5839382, essv5526603, essv6274063, essv6192721, essv6468416, essv6291418, essv6460466, essv6312196, essv5998112, essv6588176, essv6159683, essv5782318, essv5755110, essv6423738, essv5621337, essv6273085, essv6064061, essv5947962, essv6299761, essv5687197, essv6126746, essv5618441, essv6280575, essv6352928, essv6388342, essv6100772, essv6520333, essv6576177, essv5821097, essv5768298, essv6276403, essv5962325, essv6008188, essv5762143, essv6334725, essv6026540, essv6279822, essv6242604, essv6592851, essv5709810, essv6541869, essv6359637, essv5494388, essv6119386, essv6410180, essv6579550, essv6286512, essv5879745, essv6544068, essv5606120, essv6537724, essv6319287, essv6487150, essv6106654, essv6178993, essv5817846, essv6222992, essv6177598, essv6401982, essv6250799, essv6241026, essv6202535, essv5415575, essv5406101, essv5566306, essv6126602, essv5563797, essv5526423, essv5554510, essv5670821, essv6487264, essv6597554, essv6547670, essv5885212, essv5491275, essv6081864, essv6460257, essv5981455, essv5738270, essv6128287, essv5781739, essv5740703, essv5848108, essv5999338, essv6533861, essv6595808, essv6076266, essv5901726, essv5709252, essv5563900, essv6329212, essv6091057, essv5579262, essv6563409, essv6049595, essv6578734, essv5988643, essv5933431, essv6162365, essv5693590, essv5754501, essv5618015, essv5528572, essv6167372, essv6142609, essv5991745, essv5705439, essv6097689, essv5529013, essv6436499, essv6423789, essv6073169, essv5997000, essv6504993, essv6334981, essv5750965, essv5654532, essv6581338, essv5421927, essv6254793, essv6316399, essv6294931, essv5517015, essv6433020, essv5590759, essv6530063, essv6560119, essv5991419, essv5959153, essv6169795, essv5527259, essv6474645, essv6168059, essv5421705, essv5424979, essv5802244, essv6494958, essv6277900, essv6129608, essv5758334, essv5576395, essv5775353, essv6533120, essv6016540, essv5708876, essv6389426, essv5778104, essv6509778, essv5581606, essv5662329, essv6595687, essv6272215, essv6026093, essv5935238, essv5853388, essv6465953, essv6074227, essv6119262, essv5631475, essv5539213, essv6565167, essv5608745, essv6179763, essv6150842, essv6104208, essv6250253, essv6321816, essv6083910, essv5765490, essv5550154, essv6484894, essv6278757, essv5648070, essv5989041, essv6476503, essv5855014, essv5819941, essv5661320, essv5547515, essv6525377, essv6053528, essv6450621, essv5937352, essv6567820, essv6208707, essv6190700, essv5942869, essv5947448, essv5976253, essv5407779, essv5404331, essv5738124, essv5504518, essv5461161, essv5916536, essv5934747, essv6530910, essv6191314, essv5856895, essv5606763, essv6001999, essv6398144, essv6445123, essv5692480, essv6577558, essv5636560, essv5488643, essv6294442, essv6185650, essv5852450, essv5533749, essv5712162, essv5873047, essv5901056, essv6083530, essv6512021, essv6081749, essv5470906, essv5648355
SamplesNA18621, NA19207, NA19312, NA19152, NA19445, NA19625, NA19436, NA19712, NA18520, NA18595, NA18616, NA19904, NA18534, NA18530, NA18535, NA18630, NA19081, NA19819, NA19404, NA19437, NA18874, NA18612, NA18501, NA19093, NA19401, NA19311, NA19060, NA19469, NA19003, NA19072, NA19455, NA19435, NA19430, NA19359, NA19334, NA19453, NA18953, NA19451, NA18947, NA19010, NA19338, NA19449, NA19920, NA18541, NA19461, NA19144, NA18546, NA19379, NA19834, NA18963, NA19004, NA19701, NA19236, NA19355, NA19474, NA19084, NA18557, NA19472, NA19467, NA18873, NA18950, NA18626, NA18596, NA18628, NA19438, NA18868, NA18632, NA19077, NA18559, NA19062, NA19463, NA19914, NA19067, NA19428, NA19982, NA19085, NA18967, NA19054, NA18627, NA19059, NA19076, NA19390, NA18635, NA19068, NA19917, NA18536, NA18622, NA18618, NA19443, NA18623, NA19471, NA19900, NA19107, NA19444, NA18617, NA18990, NA18636, NA19396, NA18856, NA19083, NA19088, NA19397, NA18638, NA19398, NA19429, NA19440, NA19908, NA19066, NA18959, NA18976, NA19256, NA18637, NA19075, NA19835, NA20336, NA18982, NA19056, NA19457, NA18634, NA19700, NA19082, NA19316, NA18539, NA19324, NA19000, NA19055, NA19213, NA19360, NA19313, NA19377, NA19380, NA19395, NA19080, NA18620, NA19172, NA19189, NA19372, NA18633, NA20291, NA19374, NA19703, NA19375, NA19393, NA20126, NA20348, NA19373, NA19384, NA18923, NA18986, NA19102, NA19119, NA19002, NA19713, NA18941, NA19901, NA19704, NA18487, NA19347, NA19332, NA19909, NA18613, NA18988, NA19707, NA19074, NA18910, NA19382, NA19711, NA18985, NA19462, NA18606, NA18543, NA18940, NA19235, NA18619, NA18987, NA18999, NA18597, NA19921, NA19138, NA19376, NA18983, NA18599, NA18567, NA19391, NA19078, NA18538, NA18867, NA19394, NA19403, NA18565, NA19009, NA18631, NA19431, NA18560, NA18989, NA18544, NA18971, NA19434, NA18602, NA19818, NA19446, NA18614, NA19452, NA18548, NA19064, NA19063, NA19399, NA19160, NA19371, NA19916, NA18610, NA19070, NA19470, NA18611, NA19130, NA19346, NA18549, NA18574, NA18981, NA19350, NA19079, NA19381, NA19473, NA18615, NA19448, NA19468, NA19385, NA19007, NA19456, NA19065, NA19466, NA18553, NA19439
Known GenesNCOR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670996
Frequency
Sample Size1151
Observed Gain0
Observed Loss233
Observed Complex0
Frequencyn/a


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