A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2677220

Internal ID9596639
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23786587..23787154hg38UCSC Ensembl
chr12:23939521..23940088hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6134164, 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
SamplesHG01357, 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 GenesSOX5
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2677220
Sample Size1151
Observed Gain0
Observed Loss179
Observed Complex0

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