A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677220



Internal ID9596639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23786587..23787154hg38UCSC Ensembl
chr12:23939521..23940088hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38568
hg19568
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677220
Frequency
Sample Size1151
Observed Gain0
Observed Loss179
Observed Complex0
Frequencyn/a


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