A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667821



Internal ID9933926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96300300..96300638hg38UCSC Ensembl
chr9:99062582..99062920hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6268489, essv5439019, essv5548779, essv6033292, essv5950057, essv6485992, essv5799417, essv6531226, essv6470443, essv5998476, essv5404249, essv6525097, essv5595697, essv6309939, essv5719638, essv5717980, essv5964718, essv6560098, essv6029088, essv6405842, essv5601215, essv5452143, essv6382476, essv6321658, essv5712573, essv5604550, essv5528577, essv6038409, essv6067089, essv6132331, essv5871907, essv6392281, essv5427481, essv6094076, essv6530759, essv5817831, essv5634481, essv5545975, essv6094185, essv5579322, essv5770168, essv6077540, essv5550258, essv5614397, essv6108086, essv5466398, essv5487585, essv6435185, essv5699435, essv6285277, essv5788557, essv5406505, essv5871019, essv6477878, essv5793284, essv5844765, essv5771342, essv6465390, essv5403182, essv6533169, essv5548234, essv5488671, essv6453565, essv6465905, essv6280541, essv6507636, essv6139042, essv6138999, essv6394985, essv5810509, essv5470009, essv5538689, essv6270331, essv6369171, essv6475643, essv6095958, essv5770576, essv6324879, essv6015622, essv6277779, essv5435230, essv5895343, essv6585763, essv6406867, essv6066079, essv6060860, essv6003063, essv6078538, essv5985968, essv6395347, essv5828811, essv5827549, essv6124426, essv6070956, essv6287135, essv5584771, essv5733518, essv5500948, essv6092343, essv5562340, essv6015593, essv6100072, essv6552613, essv5536824, essv6420044, essv5651167, essv6062591, essv5892937, essv6384332, essv6465061, essv5836535, essv6256652, essv5930023, essv5397344, essv5767451, essv5779766, essv5509173, essv5784767, essv6538093, essv6045924, essv5425077, essv6279079, essv5629459, essv5822974, essv6386237, essv6256931, essv6423942, essv6307130, essv6138795, essv6203850, essv6384459, essv5887581, essv5503131, essv6503044, essv5831684, essv5702953, essv5427596, essv6556685, essv5403918, essv6406978, essv5536907, essv6291209, essv5719068, essv6446404, essv5552222, essv5434953, essv6386531, essv5638230, essv6496638, essv6264430, essv5720977, essv5507566, essv6090477, essv5973807, essv5635428, essv5713394, essv6114489, essv5961980, essv5708607, essv5484866, essv6239140, essv5956565, essv5919153, essv6498648, essv5651906, essv5843134, essv6408296, essv5533920, essv6537678, essv6470475, essv6200808, essv5510072, essv6086583, essv5500847, essv5727193, essv5507812, essv5418657, essv6067581, essv5991901, essv6239869, essv6479896, essv5608891, essv6462033, essv6402191, essv6482137, essv5626639, essv5979193, essv6124943, essv5648145, essv6425296, essv6351770, essv5819599, essv6241781, essv6332713, essv5990932, essv5578289, essv5921832, essv6402209, essv6156155, essv5665504, essv5485448, essv5777466, essv6221514, essv6417067, essv5740997, essv6464164, essv6129117, essv6366138, essv5832226, essv6357756, essv5897922, essv5626596, essv6590859, essv6575809, essv6467453, essv5813496, essv6037383, essv5631140, essv5646385, essv5702772, essv5927071, essv5898606, essv6177237, essv6147904, essv6087226, essv5572954, essv6563062, essv5456585, essv5664719, essv6029491, essv6385864, essv5949074, essv6254230, essv5814153, essv6144640, essv6396505, essv6201463, essv5678734, essv6520757, essv5916092, essv5619439, essv5492684, essv6453898, essv5544925, essv6363263, essv6118267, essv5850416, essv6425113, essv5930984, essv5941136, essv5734272, essv6236449, essv5580043, essv5488697, essv5990610, essv6490488, essv5486987, essv5740523, essv6224429, essv6160894, essv5576349, essv6446140, essv6227180, essv6367308, essv6532340, essv6357628, essv5403145, essv5679721, essv5848112, essv5697860, essv5751025, essv5621439, essv6588778, essv5469029, essv6477204, essv5918308, essv6500299, essv5528610, essv6423601, essv5400730, essv5490287, essv6349374, essv5500099, essv6500964, essv6181240, essv5489749, essv6404358, essv6559726, essv5984995, essv6314031, essv6381860, essv6324479, essv5716570, essv5938063, essv5441894, essv6244529, essv5625103, essv6056714, essv6046130, essv6127796, essv6126442, essv6562555, essv6265279, essv5747162, essv6045198, essv6500350, essv5747897, essv5893026, essv6168380, essv6116519, essv5799500, essv6579401, essv6038070, essv5897721, essv6138673, essv5865135, essv5402244, essv5847413, essv5955109
SamplesNA12717, HG00442, NA19058, NA12842, NA19703, HG00142, NA20766, NA12286, HG00671, NA19066, NA19204, NA18861, NA12414, NA12843, NA11920, NA11931, HG00257, HG00315, HG00151, NA19350, HG00153, NA19355, NA18504, NA20332, NA18530, NA18616, HG01461, HG00654, NA19443, NA18633, NA12750, NA12399, NA20806, NA19067, NA18602, HG00663, NA20814, NA07346, NA18563, HG00641, HG00138, NA18940, HG00589, HG00272, NA18597, HG01351, HG01177, NA19678, NA20774, NA18567, NA18547, NA18618, NA19062, NA18916, NA11918, NA19457, NA18571, HG00537, NA20291, NA19079, NA18949, HG00158, HG01069, NA19720, NA20775, NA12156, NA18868, HG00325, NA19372, NA19722, HG00160, NA18557, HG00326, NA19789, NA18605, NA20535, NA12489, HG00731, NA18538, HG01171, NA19070, NA19670, NA18933, HG00657, HG00556, HG00583, HG00344, NA18579, HG01149, HG00692, NA18548, NA18537, HG01047, NA20525, NA18573, NA11919, HG00651, HG00690, HG00404, HG00331, HG00684, NA19750, NA18532, HG01101, NA18553, NA19099, HG01334, NA18555, HG00704, NA19682, HG01148, NA19375, NA19003, HG00258, NA18632, NA19390, HG00336, NA19147, NA19712, NA18564, NA19747, HG00353, NA18628, NA19444, NA20520, NA19010, NA20790, NA20527, HG01375, HG00473, HG01137, HG00116, NA12763, HG00620, HG00339, NA18501, NA06994, NA19785, NA18631, NA19716, HG00267, NA19102, NA18873, NA19770, NA20826, NA19780, HG00377, NA20502, NA18989, HG01125, HG00628, NA18624, NA12890, NA20585, NA18612, NA19074, HG01437, NA18620, HG00626, HG01060, HG01441, HG01356, NA19055, NA11995, NA11829, NA18592, HG01359, NA18561, NA11933, NA18599, NA20813, NA20532, NA18603, NA18545, NA19777, NA18596, HG00566, HG00150, NA20507, NA19190, NA18870, HG01140, NA12341, HG00327, NA20537, NA19746, NA19660, NA19005, NA18944, NA18550, HG01070, HG00501, NA19728, NA18595, HG00702, HG00689, HG00448, HG00173, NA19723, NA18982, NA18635, NA19916, NA18942, HG00610, NA19649, NA12283, NA19771, NA19088, HG00247, HG00369, NA19681, NA12761, HG00277, NA19651, HG01067, NA06984, HG01170, NA19719, NA19731, NA19385, HG00422, NA18986, HG01440, HG00309, HG00427, NA19901, NA19725, HG00159, NA12828, HG00530, NA18638, NA11993, NA10847, HG01353, HG01183, HG01136, NA18544, HG00560, NA19210, HG00629, NA19657, HG00596, NA20505, HG00475, NA18516, HG00436, HG00533, NA18637, HG00500, NA19788, NA20506, NA19658, NA18910, NA18630, HG00619, NA19776, HG00708, HG01390, HG01073, NA19114, NA19000, NA19655, HG01383, HG00613, HG00525, HG00276, NA20542, NA18634, NA20534, NA19675, NA19436, NA20765, NA18546, NA19685, NA20522, NA18535, NA11881, NA19108, NA18543, NA18559, NA19749, NA18950, NA19732, NA20804, NA12046, HG00607, NA19786, NA19467, HG00319, NA20797, HG00256, HG00269, HG00707, HG00672, HG00329, NA18987, NA12749, NA20334, HG00123, NA12830, HG00186, NA20807, HG00698, NA19726, NA20528, NA18552, HG01251, HG00372, HG00252, NA19661, HG01377, NA19755, NA19004, NA19758, NA18549, HG01191, HG00437, NA18562, NA20509
Known GenesHSD17B3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667821
Frequency
Sample Size1151
Observed Gain0
Observed Loss319
Observed Complex0
Frequencyn/a


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