A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670650



Internal ID9590069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1328824..1329444hg38UCSC Ensembl
chr12:1437990..1438610hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6093316, essv6049866, essv5921234, essv6410563, essv6355259, essv6403477, essv5885069, essv5623964, essv5934659, essv5928264, essv5945527, essv6452591, essv5795632, essv5745536, essv5461288, essv6434538, essv6582977, essv6490217, essv5860949, essv5886138, essv5569450, essv6548471, essv6318671, essv5663488, essv6061559, essv6528704, essv6462700, essv6128820, essv5773833, essv5864196, essv5804834, essv5591343, essv6121654, essv6317415, essv6181841, essv5949442, essv6446345, essv6273519, essv5574360, essv6331075, essv5858678, essv5778954, essv6187967, essv6062638, essv5548851, essv6272848, essv6302555, essv6295271, essv6131219, essv5476762, essv5658433, essv6410571, essv5922723, essv5799610, essv5745779, essv6547234, essv5471488, essv6265375, essv6538559, essv5828556, essv5680819, essv6306753, essv5621851, essv6338323, essv5871988, essv6481246, essv6188640, essv5780297, essv5906013, essv6075668, essv5760833, essv5613511, essv6075568, essv6179365, essv6202901, essv6450154, essv5453914, essv5708243, essv6275581, essv6008236, essv5813803, essv6533009, essv5561959, essv5438391, essv6181231, essv6419182, essv5408435, essv5812552, essv6082815, essv5397053, essv6557698, essv6134373, essv5459065, essv6532789, essv5815477, essv5853091, essv6259432, essv5721591, essv6031510, essv6233820, essv5870756, essv5572712, essv6475760, essv5462400, essv5575582, essv5760556, essv5721015, essv5523806, essv5609965, essv5451451, essv5805288, essv5808211, essv6577036, essv5907082, essv5585308, essv6220328, essv6198628, essv5903553, essv5744062, essv6382556, essv6000744, essv6207738, essv6583928, essv6503751, essv5520935, essv5524100, essv6514088, essv5696465, essv6263700, essv6100180, essv6408867, essv6404982, essv6451130, essv5577624, essv6077382, essv5767027, essv5636992, essv5647451, essv5425686, essv6489204, essv5916205, essv6254912, essv6497651, essv6235353, essv6461882, essv6405987, essv6096818, essv5415982, essv6093953, essv5422293, essv5964981, essv5586149, essv5488656, essv5876973, essv5598734, essv5419185, essv6141007, essv5991963, essv6407918, essv5682801, essv5621881, essv5889261, essv6361417, essv5894171, essv5614537, essv5520527, essv5786644, essv5751683, essv6034355, essv6148444, essv6037659, essv5490295, essv6261215, essv6083599, essv5922437, essv5603139, essv6300140, essv6204903, essv5503530, essv5762097, essv6019964, essv6508994, essv6177561, essv6544430, essv5997189, essv6218381, essv5693906, essv5484385, essv5997541, essv5642308, essv5659879, essv5729639, essv5540934, essv5778312, essv6260893, essv5956311, essv5684148, essv6278582, essv6099787, essv5764402, essv5738812, essv6021467, essv5861699, essv5873371, essv6261762, essv5797309, essv6574316, essv6145551, essv6349273
SamplesHG00323, HG01357, NA20281, NA19012, NA18621, NA12154, NA19152, HG00152, HG00734, NA19436, HG00536, HG00607, NA20787, NA19904, NA18530, NA18535, NA18871, NA20785, HG00100, NA18561, HG00551, NA12342, HG00145, NA11920, NA18612, HG00131, NA20544, NA20346, HG00707, NA18511, NA19455, NA06989, HG01079, NA18603, NA20294, HG01389, NA20296, NA19430, HG01197, NA18516, NA20808, NA18953, NA19451, HG00475, HG00542, NA19449, NA18573, NA18608, HG00148, NA20778, HG00139, HG00190, NA18546, NA19210, HG01167, NA12058, HG00683, HG00111, NA18963, NA19685, HG00404, HG00557, NA19108, NA19474, NA18557, NA12287, HG01171, NA18626, NA18949, NA20340, HG00247, HG00256, NA19077, HG00543, NA18559, NA12843, NA18627, HG00593, HG00472, HG00583, NA12004, NA18635, NA19917, NA20811, HG00638, NA12155, NA18622, NA18960, NA07357, NA20757, NA18990, HG00692, HG01183, HG00689, NA18636, NA19396, HG01124, NA19083, NA18638, HG00338, HG00533, HG01360, NA19256, NA20282, NA18593, NA18982, NA19681, NA19056, NA19700, HG00343, NA12144, NA19082, HG00662, NA19324, NA20773, NA19190, HG00267, NA19785, NA18537, NA18620, NA19129, NA18633, NA18572, NA19374, NA19703, NA19375, NA20126, NA19373, HG00325, HG00629, NA12348, NA18986, NA19657, NA18558, NA18941, HG00672, NA18504, NA20818, HG00478, NA11892, NA18564, NA18942, HG00116, NA19332, HG00513, NA18562, NA19074, NA18579, NA18985, NA19462, HG01149, HG00120, NA18543, NA18940, NA18619, NA10851, NA18582, NA18597, HG00595, NA19376, NA20534, NA18599, NA18909, NA19391, NA19723, NA19078, NA19201, HG00611, NA20332, NA20799, NA06984, HG00663, NA19116, HG00262, NA18989, NA18544, HG00311, HG00608, HG00654, NA19452, NA18533, NA18548, NA20317, NA18944, NA19225, NA19327, NA18917, NA19717, HG00656, NA18499, NA19371, HG00708, NA19315, HG00566, HG01177, NA18532, NA18549, NA18574, HG00626, HG00671, NA20772, NA19468, HG00704, NA18555, NA19661, NA18519, NA19065, NA18980, NA19439
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670650
Frequency
Sample Size1151
Observed Gain0
Observed Loss209
Observed Complex0
Frequencyn/a


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