A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2678705

Internal ID9598124
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19112417..19113112hg38UCSC Ensembl
chr22:19099930..19100625hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5607796, essv5586361, essv5415294, essv6381982, essv5452447, essv6590377, essv5694046, essv5606176, essv5970650, essv5617638, essv5675814, essv6517564, essv6261888, essv5482088, essv5971922, essv5771709, essv5904163, essv6061649, essv5624431, essv5565620, essv6548581, essv5779526, essv6151562, essv5882724, essv5497031, essv5519417, essv5664521, essv6156229, essv6162490, essv5800222, essv6215190, essv6233385, essv6448859, essv6597282, essv5580329, essv6236885, essv6059138, essv5601631, essv6074003, essv6351696, essv5748771, essv6457367, essv6568803, essv6358270, essv5935405, essv6329172, essv6363596, essv5855881, essv5861814, essv6301668, essv6368741, essv6580889, essv6481778, essv6088747, essv5865734, essv5939622, essv6458054, essv5898841, essv5876749, essv6021091, essv5662254, essv5747763, essv6170100, essv5467873, essv5612316, essv6247901, essv5929741, essv5584571, essv5587595, essv6534745, essv6198261, essv6021787, essv5854519, essv6156448, essv6364603, essv6059463, essv5727439, essv6287195, essv6596890, essv5980056, essv5955574, essv6116725, essv5572192, essv6398493, essv6180849, essv5967090, essv6224442, essv6423075, essv5736260, essv5465275, essv6578843, essv5514285, essv6482841, essv5592945, essv6225230, essv5440766, essv5884208, essv5836314, essv5460767, essv6581910, essv6550073, essv5498116, essv5902931, essv6554128, essv6039290, essv5948869, essv6454425, essv6298596, essv5602455, essv6580961, essv5929346, essv6008531, essv6498120, essv6025373, essv6348477, essv5691592, essv6140445, essv6355247, essv6238404, essv5687834, essv5465401, essv6516368, essv6316809, essv5776687, essv5562429, essv5832318, essv6180405, essv5458649, essv6341199, essv6401073, essv5458922, essv5440383, essv6026622, essv5433795, essv5405406, essv5593097, essv5906723, essv6081728, essv6070310, essv6208964, essv5687904, essv5634303, essv5397218, essv6065520, essv5687697, essv5474557, essv6183092, essv6533057, essv6243752, essv6231810, essv6271812, essv5642251, essv5472826, essv5944740, essv5535565, essv6241265, essv6091755, essv5770646, essv5436590, essv6061179, essv5927925, essv5563005, essv5575260, essv5474119, essv6223196, essv5828335, essv5467099, essv5986583, essv5868347, essv6200087, essv5825778, essv5677751, essv6515577, essv5641576, essv6324329, essv5524922, essv6148566, essv6103822, essv6265969, essv5639593, essv6588279, essv6408639, essv5654014, essv6068739, essv5916894, essv5647370, essv5819380, essv5598155, essv6350457, essv6168565, essv5396374, essv6074408, essv6534705, essv6475139, essv5464778, essv6324110, essv6581637, essv6471587, essv5533855, essv5871196, essv6256059, essv5698537, essv6485475, essv6563511, essv5479402, essv5529901, essv5457722, essv6095653, essv5541846, essv6327309, essv5648657, essv5619847, essv6046490, essv5508418, essv5627130, essv6457789, essv5622884
SamplesHG00323, NA18870, NA18964, HG01515, NA12718, NA19445, NA19625, HG00252, HG00536, HG01440, NA07347, NA18616, NA19904, NA07037, NA18534, HG01072, NA19081, NA12342, NA18523, NA19114, HG00705, NA07056, HG01342, HG00171, NA18612, HG00464, NA19093, NA20544, NA19401, NA20535, HG00736, NA19311, HG00449, NA11918, HG00707, NA19223, NA12340, NA18545, HG01389, NA20296, NA18948, HG01197, HG01051, HG00117, HG00189, HG00577, HG01492, HG01082, HG01174, HG01491, HG00139, HG00739, NA19144, NA12058, HG00334, HG01204, NA12776, NA19685, HG00404, HG01461, NA07051, HG00335, HG01134, NA19257, HG00366, NA19701, NA18965, NA18488, NA19474, HG00737, NA19084, NA18873, NA18950, NA18628, NA18949, HG00247, HG01133, HG00266, NA19762, HG00115, HG00154, HG01107, NA19062, HG00321, NA19914, NA20761, HG00556, HG00242, NA18912, HG00179, NA19059, NA20515, NA18536, NA18622, HG00180, HG00259, NA18563, NA19443, HG01048, HG00372, HG00692, HG01047, NA18636, NA19396, NA20754, NA19088, HG00330, NA18638, NA19429, HG00150, NA18609, NA20765, HG00258, NA11843, HG01136, NA11894, NA19075, NA11995, HG00637, NA18982, HG00243, HG00403, NA19457, NA18634, HG00237, NA20341, HG00133, HG00662, HG00114, NA12751, NA19190, HG00373, NA19247, HG00159, HG01111, NA19080, HG00108, NA18537, HG01465, NA19172, HG00233, NA12892, NA18572, NA20536, HG01066, NA19375, NA20760, HG00732, NA12778, NA12348, NA18486, NA12275, NA18510, HG00560, HG01073, NA18558, HG00273, HG00282, HG00232, HG01069, HG00249, NA11892, NA18487, HG00116, HG00103, HG00740, NA18613, NA20542, NA20766, NA18910, NA19711, NA18985, NA18945, NA18543, NA18582, NA19921, HG00595, HG01095, HG00443, NA18909, NA06984, HG00663, HG00262, NA18560, NA20289, NA19818, NA19099, NA20509, HG01390, NA12878, NA11992, NA19770, NA19327, NA19399, NA20812, HG00142, NA19470, HG01125, NA11829, NA19130, HG00320, HG01522, NA19079, NA06994, HG00143, NA20772, NA19092, NA19661, NA19456, NA07000, NA12775, NA19466, HG01067, HG01354, NA18553, HG00327, HG01198
Known GenesDGCR2
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2678705
Sample Size1151
Observed Gain0
Observed Loss217
Observed Complex0

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