A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671733



Internal ID9937838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173287057..173287375hg38UCSC Ensembl
chr2:174151785..174152103hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6242771, essv5894994, essv6273390, essv5867820, essv6062981, essv5813393, essv5909328, essv6297652, essv5697342, essv6449618, essv5707176, essv5876964, essv5627307, essv5576723, essv6465319, essv5967210, essv6254173, essv6263267, essv5416373, essv5502217, essv5514330, essv6499513, essv5911891, essv6162017, essv5780934, essv6259908, essv6191165, essv6203464, essv5814416, essv6519565, essv5909086, essv5934241, essv6595066, essv6547315, essv5492658, essv5537394, essv6451440, essv6452856, essv5807729, essv6031708, essv5740162, essv6353821, essv5798167, essv6239432, essv5966680, essv6414093, essv5438756, essv5527094, essv6118686, essv6441080, essv5961668, essv5898837, essv6403667, essv5863998, essv6265761, essv5852970, essv5688146, essv5643000, essv5856996, essv5455545, essv6507238, essv5734631, essv5643888, essv5980339, essv6250329, essv5841433, essv6564746, essv6318807, essv6052036, essv5482796, essv6558412, essv5486758, essv5577641, essv6506225, essv6250346, essv6465832, essv6108568, essv5871547, essv5802908, essv6304058, essv6210656, essv6041905, essv5922257, essv6536255, essv6341030, essv5939085, essv5584192, essv6004468, essv5430252, essv6564049, essv6587343, essv5958276, essv5609551, essv6175226, essv6061819, essv5968361, essv5591740, essv5397844, essv5463163, essv6494862, essv6470605, essv6210781, essv5847006, essv5650705, essv5591245, essv5969139, essv6303474, essv5760977, essv6560221, essv6128036, essv5603271, essv6530314, essv6572177, essv6244408, essv5844929, essv5822024, essv5540359, essv5856368, essv5963247, essv5505125, essv6419030, essv6078055, essv6401095, essv5782515, essv5454666, essv5618641, essv6157420, essv5775847, essv5754103, essv5679522, essv5557358, essv5718293, essv6460804, essv6406294, essv5587015, essv6509703, essv5850361, essv6555374, essv6020516, essv5784878, essv5487827, essv6117954, essv6063138, essv5748936, essv5738086, essv6385162, essv6132788, essv6426319, essv6026528, essv5505234, essv5773730, essv5669953, essv5659556, essv5451978, essv6065819, essv6530351, essv6408629, essv5528473, essv5949514, essv5936527, essv5680518, essv6385360, essv5475586, essv6157700, essv6481232, essv6484891, essv6524070, essv5899650, essv5991193, essv6323386, essv5670522, essv6005569, essv6376876, essv6330778, essv5962130, essv5921661, essv6322899, essv5731605, essv5921303, essv6485445, essv5998889, essv6569744, essv5715838, essv5931431, essv6164543, essv6180614, essv6313706, essv5850665, essv5492629, essv6461962, essv5864144, essv5892856, essv5423867, essv6046715, essv6010958, essv5819177, essv5789460, essv6289491, essv5811882, essv5903434, essv6101162, essv6534018, essv6436772, essv6116114, essv5658664, essv5476579, essv5952499, essv5840262, essv6240492, essv5585833, essv6257794, essv6130947, essv5915468, essv6003138, essv6181791, essv5865012, essv5664557, essv5628623, essv6124596, essv5767858, essv5861343, essv6180021, essv5586929, essv5422255, essv6406065, essv6047867, essv6040175, essv6463452, essv6229346, essv6591706, essv6043470, essv6322734, essv6344095
SamplesNA20588, NA19701, HG00542, NA18621, HG00142, HG01066, NA20816, NA20802, NA20512, HG00244, NA19355, NA20332, NA19684, HG00449, NA20517, NA19443, NA20356, NA19920, HG00261, HG00337, NA19446, HG00641, NA19379, NA18519, NA19315, NA18597, NA20798, NA20756, NA18558, NA18960, NA18574, NA07347, NA18582, NA19457, HG01083, NA20287, NA19384, HG00537, HG00311, HG00243, NA19130, NA18949, NA20539, HG00232, HG00534, NA19172, HG00118, HG01048, HG01133, HG01550, HG00253, NA19789, NA19921, NA20753, HG01124, HG00137, NA18951, NA20535, NA12489, NA18538, HG00268, HG01171, HG00732, NA20760, NA19717, NA20519, NA18572, NA19064, HG00740, NA11919, NA19084, NA20581, NA12829, HG00331, HG00140, HG01497, NA18555, NA19452, NA19469, HG00246, HG00126, NA18858, HG01107, NA19003, HG00258, HG00265, NA19147, NA19712, NA19434, NA18564, NA20815, NA12272, NA20530, HG01375, NA19679, NA19428, NA19324, NA19311, HG01342, HG00339, NA19223, NA19779, NA18636, NA19116, NA19711, NA20503, HG00595, NA11892, NA18624, NA18623, NA19065, NA18612, HG01437, HG00581, NA20772, NA19676, HG00626, HG01060, HG00114, NA19700, HG01356, NA20543, HG01359, NA19914, HG01052, HG01079, NA20813, HG00318, NA18486, NA19819, NA19393, NA20805, NA19057, NA18596, NA12058, HG00179, NA19190, NA12400, NA12155, HG01140, NA12413, NA20537, NA19374, NA19746, NA19381, NA19076, NA19448, NA18595, HG01488, HG00689, NA18982, HG01354, NA19138, HG00369, NA18964, NA19404, HG01134, NA12282, HG00277, NA18874, HG01495, NA19371, NA19385, NA19471, NA19901, NA18520, HG00159, NA20533, NA18638, HG00108, NA20818, NA19007, NA11831, HG00543, HG00133, HG01384, NA20505, NA19077, NA19347, NA18956, NA18991, NA18637, HG00708, NA19449, HG00373, NA12249, HG01383, HG00525, NA12827, HG00276, NA20542, HG01204, NA20765, HG00124, NA18542, NA18909, NA18543, NA12775, HG00366, NA19473, HG00357, HG00136, NA18941, NA19380, HG01494, NA20504, NA19467, HG00319, HG01108, NA20797, NA19818, NA19078, HG00707, HG00578, NA12749, NA20334, NA19713, HG00186, HG00131, NA19726, NA19213, NA20528, HG00372, HG01377, NA18505, NA18488, HG01082, NA19758, NA20322, NA18522, HG01191, HG00180, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671733
Frequency
Sample Size1151
Observed Gain0
Observed Loss233
Observed Complex0
Frequencyn/a


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