A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678705



Internal ID9598124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19112417..19113112hg38UCSC Ensembl
chr22:19099930..19100625hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38696
hg19696
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678705
Frequency
Sample Size1151
Observed Gain0
Observed Loss217
Observed Complex0
Frequencyn/a


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