Variant DetailsVariant: esv2677220 | Internal ID | 9596639 | | Landmark | | | Location Information | | | Cytoband | 12p12.1 | | Allele length | | Assembly | Allele length | | hg38 | 568 | | hg19 | 568 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv6134164, essv5450396, essv6252491, essv5765485, essv6511554, essv5459054, essv6188161, essv5942941, essv5831057, essv6509557, essv5633088, essv6280354, essv6445727, essv5845834, essv5920249, essv5815995, essv5933711, essv5829094, essv6461297, essv6121915, essv5812533, essv6111441, essv6231518, essv6257505, essv5985148, essv6465614, essv5637475, essv6076552, essv6166112, essv5466056, essv6528861, essv5843863, essv5638836, essv5763329, essv5921339, essv5841886, essv6311376, essv5945725, essv5786586, essv6474042, essv5622669, essv5677761, essv5763681, essv6381821, essv6595116, essv6182338, essv5685873, essv5613175, essv6584081, essv5665990, essv6506364, essv6186584, essv5953663, essv5467488, essv6587577, essv6530655, essv6539733, essv5795530, essv6025207, essv6172662, essv6089332, essv5712508, essv6179008, essv5797532, essv5628655, essv6113549, essv6466146, essv6469462, essv5778304, essv5472779, essv6309335, essv5477108, essv6462510, essv6156833, essv6211885, essv6343674, essv6117141, essv5882549, essv6548091, essv5895485, essv5494180, essv5679765, essv6342182, essv5684576, essv5740690, essv6283996, essv6310571, essv5401292, essv6048432, essv6112549, essv6124296, essv5931081, essv5908510, essv6593268, essv5497012, essv6516575, essv6442043, essv5605153, essv5735875, essv6534260, essv6223547, essv5452520, essv5395846, essv6168797, essv5415568, essv6159999, essv5803923, essv5996777, essv6356483, essv5818007, essv5460936, essv6460707, essv5623089, essv6213777, essv5400270, essv5805484, essv6300856, essv6468946, essv5903112, essv5657643, essv6083364, essv5702127, essv5804322, essv5578126, essv6443618, essv6069150, essv5575514, essv6207693, essv5403749, essv5547892, essv6210181, essv5977470, essv6288456, essv5451875, essv5682300, essv5998039, essv5583663, essv6415858, essv6300927, essv6315759, essv5914861, essv5861235, essv6415300, essv5459810, essv6400406, essv5667388, essv5611096, essv6174866, essv5831551, essv5685210, essv5411970, essv6523148, essv6287026, essv5807965, essv6185662, essv5577752, essv6166271, essv6009544, essv5468219, essv5697072, essv6404652, essv6000531, essv5987239, essv5783742, essv5727474, essv5404113, essv6538153, essv6224804, essv5458634, essv6440511, essv5808216, essv6361137, essv6341657, essv6467546, essv5730988, essv5723833, essv5746117, essv6125111, essv6515776 | | Samples | HG01357, NA11881, HG00537, HG00734, HG01359, NA18861, HG00252, NA12750, HG00257, NA12748, NA20771, NA20809, HG00344, HG01353, NA18630, HG01072, HG01055, NA18523, NA11920, NA19209, HG00186, NA18501, HG00131, NA19401, NA19311, NA19469, HG00310, NA19072, HG01389, NA19430, HG00463, HG00657, NA12813, NA19334, HG00189, HG00577, HG01492, HG01082, NA18517, NA19010, HG00375, HG00542, HG00173, HG00148, NA19920, NA19782, HG00139, NA18489, HG00190, HG00122, NA19210, HG00683, HG01188, HG00334, HG00651, NA19678, HG00280, HG00578, NA11893, HG00177, HG00331, NA19701, HG00737, HG00699, NA18557, NA18943, HG00188, HG01171, HG00353, HG00479, NA18628, NA19438, HG00247, HG00554, HG00256, HG00244, NA19463, HG00158, NA19428, NA12763, NA19383, NA19085, HG00250, HG00593, NA18566, HG00337, NA18635, NA19197, NA19471, HG01048, HG00231, HG00372, NA19396, NA18856, HG00149, HG00533, NA18973, HG00174, NA18593, HG00284, NA19457, HG00133, NA19213, NA19676, NA20769, NA19377, NA19153, NA19129, NA12892, NA19374, NA19393, NA19373, HG00185, NA18486, NA18986, NA19102, NA06986, NA20753, HG00176, HG00260, HG01073, NA18558, HG01069, HG00478, NA18858, HG00277, NA19332, NA20797, HG00513, HG00246, NA19074, NA19131, HG01060, NA19711, NA19462, NA18945, HG00151, NA12891, NA18999, NA20537, HG00595, NA12272, HG01095, NA18909, NA20518, HG00608, NA18577, NA12878, NA11830, NA12003, NA20810, HG00281, HG00285, NA18944, NA18571, HG01108, NA12045, NA19130, HG00251, NA19240, NA19346, HG00690, NA18574, NA18853, HG00183, HG01522, NA18908, NA19079, NA19381, HG01110, HG00336, HG00476, NA19468, NA20538, NA19750, HG00271, NA19779, HG01067, HG00327 | | Known Genes | SOX5 | | Method | Merging | | Analysis | No reference, merging analysis | | Platform | Merging | | Comments | High quality site | | Reference | 1000_Genomes_Consortium_Phase_1 | | Pubmed ID | 23128226 | | Accession Number(s) | esv2677220
| | Frequency | | Sample Size | 1151 | | Observed Gain | 0 | | Observed Loss | 179 | | Observed Complex | 0 | | Frequency | n/a |
|
|
