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 | essv5723833, essv6134164, essv6381821, essv6069150, essv6400406, essv5450396, essv5746117, essv6462510, essv6511554, essv5977470, essv6310571, essv6415300, essv6166112, essv5697072, essv6523148, essv5843863, essv5805484, essv5763329, essv5466056, essv5472779, essv5763681, essv5497012, essv5685210, essv5797532, essv6287026, essv6185662, essv6442043, essv6083364, essv5765485, essv6445727, essv6467546, essv5458634, essv5987239, essv6182338, essv6315759, essv6025207, essv5667388, essv6211885, essv5477108, essv5451875, essv6548091, essv6207693, essv5633088, essv5942941, essv5861235, essv5494180, essv5467488, essv5831057, essv6538153, essv6111441, essv6113549, essv6509557, essv5685873, essv5679765, essv5882549, essv5998039, essv5578126, essv5712508, essv6224804, essv6342182, essv6156833, essv5684576, essv6539733, essv6460707, essv6168797, essv6530655, essv6300856, essv5677761, essv5895485, essv6089332, essv5622669, essv6356483, essv6341657, essv6309335, essv6223547, essv6117141, essv5845834, essv6515776, essv5411970, essv5611096, essv5637475, essv6443618, essv5400270, essv6595116, essv6188161, essv5727474, essv5628655, essv5831551, essv6528861, essv6288456, essv6125111, essv6283996, essv6121915, essv6465614, essv5459810, essv5778304, essv5404113, essv5807965, essv5841886, essv5953663, essv5921339, essv5702127, essv5605153, essv5730988, essv5812533, essv5575514, essv6300927, essv6311376, essv6593268, essv5804322, essv5795530, essv5657643, essv5985148, essv6534260, essv5735875, essv5808216, essv5415568, essv5577752, essv6179008, essv5623089, essv5933711, essv6124296, essv6469462, essv6000531, essv5945725, essv5452520, essv6159999, essv6174866, essv5914861, essv6231518, essv5815995, essv6468946, essv5613175, essv6440511, essv5829094, essv6584081, essv6587577, essv6172662, essv6461297, essv6280354, essv5903112, essv6361137, essv6516575, essv5547892, essv6343674, essv5638836, essv5401292, essv5931081, essv5395846, essv6466146, essv6112549, essv6506364, essv5908510, essv5460936, essv6166271, essv6404652, essv5665990, essv6474042, essv6415858, essv5996777, essv6213777, essv5682300, essv6257505, essv5403749, essv6048432, essv5740690, essv5583663, essv5468219, essv6076552, essv5783742, essv5818007, essv5920249, essv6186584, essv6009544, essv6252491, essv5786586, essv6210181, essv5803923, essv5459054 | | Samples | HG01060, HG00189, NA19701, HG00542, NA11830, HG00231, HG00608, NA18861, HG01359, NA19332, NA11920, HG01188, HG00257, HG01389, HG00151, NA18999, NA12045, HG00244, NA18486, HG00699, NA19393, NA19377, HG00737, HG00177, NA19920, NA20771, NA12750, HG01522, HG00337, HG00327, HG00271, NA12813, NA20537, NA19374, NA19396, NA19381, NA19373, NA18944, HG00251, HG00122, NA18489, NA19678, HG00173, NA18635, NA12891, NA18558, NA20769, HG01492, NA19131, NA18574, NA19197, NA19457, NA18571, HG00247, HG00334, NA19782, HG00185, HG00537, HG01110, NA19130, NA19079, HG00158, HG00281, HG00139, HG00277, HG01069, HG01067, NA20518, NA19383, HG00683, HG00148, HG01072, NA19471, NA18986, NA18557, HG01048, NA19209, NA18908, NA18973, NA20753, NA12748, HG00260, HG01353, HG00133, HG00188, HG00149, NA19210, HG00183, HG00176, HG01171, NA12003, NA19462, NA12878, HG00190, NA20809, HG00577, HG01095, HG00657, NA20810, HG00533, HG00344, NA18630, NA18566, HG00284, HG01073, HG00651, HG00250, HG00690, HG00479, NA11893, HG00331, NA20538, NA18856, NA19750, NA12892, NA18853, NA18523, HG00463, NA19469, HG00246, NA18858, NA18593, NA18945, NA19401, HG00476, NA18909, NA11881, HG00336, HG00285, NA18517, HG00353, NA18628, NA19072, HG00375, NA12272, HG00734, NA19240, NA19010, HG01357, NA19334, NA19428, NA19311, NA18943, HG01108, NA20797, HG00256, NA12763, NA19085, NA06986, NA18501, HG00513, HG00578, HG00478, NA19438, NA19779, NA19468, HG01055, HG00174, HG00310, HG00186, NA19102, HG00280, HG00131, NA19711, NA19213, HG00372, HG00252, HG00595, NA19430, NA19129, HG01082, NA19463, HG00554, NA19346, NA19074, NA19153, NA18577, NA19676, HG00593 | | 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 |
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