A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668438



Internal ID9587857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132926330..133105636hg38UCSC Ensembl
Outerchr12:132925659..133106206hg38UCSC Ensembl
Innerchr12:133502916..133682222hg19UCSC Ensembl
Outerchr12:133502245..133682792hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38180548
hg19180548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv330e199
Supporting Variantsessv6200044, essv6416215, essv5499793, essv6273417, essv5860602, essv6213969, essv5651609, essv6532278, essv5503458, essv6535493, essv5596595, essv5582510, essv5515305, essv6330386, essv5988117, essv5858075, essv5829466, essv5769440, essv6047264, essv6476969, essv5692796, essv6446856, essv6171126, essv5785268, essv6231416, essv6548960, essv5901517, essv5820732, essv6051037, essv5440419, essv6134292, essv5700513, essv5997767, essv5460674, essv6448236, essv5947579, essv5718478, essv5654124, essv6405317, essv5590512, essv5491735, essv6139073, essv5691491, essv5637236, essv5546519, essv6306784, essv5454038, essv5663000, essv6347266, essv6145283, essv6498928, essv5484209, essv6312809, essv5880345, essv5563556, essv5864918, essv6275945, essv6111246, essv5838106, essv6123990, essv5873356, essv6329436, essv6426667, essv5965212, essv5643342, essv6107969, essv6425466, essv5744817, essv6304352, essv6291519, essv6097998, essv6150841, essv5572612, essv6405794, essv6580201, essv5871468, essv6479984, essv5637373, essv6597376, essv5765306, essv6166146, essv6039373, essv6198760, essv6133526, essv6438998, essv6509729, essv5474935, essv6192733, essv6115113, essv5967435, essv6532135, essv6373700, essv5890877, essv6074382, essv5633213, essv5473234, essv5612293, essv6460957, essv6132203, essv5912039, essv5509180, essv6569085, essv5755766, essv5411192, essv5455155, essv6550409, essv5767563, essv6049147, essv6324349, essv6238005, essv5431217, essv6538618, essv6444831, essv6179373, essv5666706, essv6428817, essv5455759, essv6080680, essv5493053, essv5595674, essv5759270, essv6030676, essv6081958, essv5639123, essv5560125, essv5885733, essv6125013, essv6309918, essv6583207, essv5805956, essv6084507, essv6075694, essv5714469, essv5690563, essv6434615, essv5403127, essv5590119, essv5624167, essv5483895, essv5521378, essv5784462, essv5493638, essv5488691, essv5442170, essv6249300, essv6273325, essv5426700, essv6198125, essv5831163, essv6260587, essv5704942, essv5406320, essv6509331, essv6182317, essv6547633, essv6352305, essv5484800, essv5621608, essv6034534, essv5932238, essv5460917, essv6169284, essv6312550, essv6318611, essv6209227, essv6105565, essv5819154, essv6338997, essv6019861, essv5646314, essv5783235, essv6575780, essv6328110, essv6048024, essv6340479, essv6021015, essv5408049, essv6426714, essv5867223, essv5513587, essv5546824, essv6543776, essv6201391, essv6179594, essv6235851, essv6383104, essv6434399, essv6373663, essv5832673, essv6566298, essv6258778, essv6047654, essv6132013
SamplesHG01060, NA19648, HG01173, HG01521, HG01098, NA18621, NA19664, NA18592, HG01052, NA18565, HG01079, NA18561, HG01188, NA18599, HG01066, NA18603, HG00640, NA18545, NA19777, NA18596, NA19684, NA18530, NA18606, HG00737, NA18616, HG01518, NA18526, HG01051, NA18633, NA18602, HG01522, NA18627, NA18563, HG00641, NA19746, NA19660, NA18550, HG01070, NA18597, NA19762, NA19728, NA18595, NA19678, HG01167, HG01168, NA19723, NA18635, NA18567, NA18558, NA18547, NA18618, HG00736, NA18574, NA18582, NA19771, NA18571, HG01083, NA19782, NA19681, NA18611, HG01069, NA19720, NA19651, HG01080, HG01067, HG01519, HG01170, NA19719, HG01072, NA18560, NA19731, NA18617, HG01176, NA19722, NA19725, HG01198, HG00637, NA18557, HG01048, NA19789, NA18539, NA18638, NA18614, HG01183, NA18544, NA18605, NA18613, HG00731, NA19657, NA18538, HG01187, HG01171, HG00732, HG01095, HG01515, NA19717, NA19663, NA18637, NA19788, NA18579, NA18572, NA18534, NA18630, NA19776, NA18548, HG00740, NA18537, HG01047, NA19654, NA18566, HG01102, HG01073, NA18573, NA19774, NA19655, NA18626, HG01197, NA19750, HG01182, NA18532, HG01101, NA18553, NA19761, NA18555, NA19682, NA19756, NA18536, NA18570, NA18634, NA18593, HG01107, NA19675, NA18541, HG01204, HG01075, NA18576, NA18546, NA18608, NA19685, NA19729, NA18632, NA19652, NA18542, NA18535, HG01190, NA18543, NA18559, NA18564, NA19749, NA19747, NA18628, NA19732, HG00734, HG00638, NA19773, HG01174, NA19679, NA19786, HG01108, NA19783, NA18615, NA18610, NA19759, NA19785, NA18631, NA19779, NA19716, HG01055, NA18636, NA18609, NA19770, NA19726, NA19780, NA18552, NA19661, NA19755, HG01082, NA19758, NA18624, NA18623, HG01097, HG00554, NA18612, NA18549, HG01191, NA18622, HG01061, HG00553, NA18562, NA18577, NA19676, NA18620, HG01516
Known GenesZNF140, ZNF26, ZNF605, ZNF84
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668438
Frequency
Sample Size1151
Observed Gain0
Observed Loss193
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer