A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662140



Internal ID9581559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127419339..127423797hg38UCSC Ensembl
chr9:130181618..130186076hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384459
hg194459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1376e199
Supporting Variantsessv6407858, essv6209618, essv6304261, essv5710329, essv5486072, essv5691532, essv6195014, essv5877864, essv6304264, essv5497879, essv6443858, essv6048787, essv6393291, essv5921701, essv6065248, essv5713370, essv5606234, essv6067140, essv5700486, essv5983153, essv5634792, essv5966355, essv6568872, essv5960913, essv5880247, essv5735967, essv5526065, essv6138080, essv6020086, essv6010089, essv6082610, essv6065725, essv6463546, essv5820801, essv5856901, essv6463980, essv5928001, essv6456111, essv5682273, essv6256288, essv5852391, essv5631708, essv5778989, essv5848386, essv6236792, essv5567949, essv5941474, essv6507750, essv5597074, essv5952528, essv6300436, essv5446175, essv5496779, essv6140784, essv6184786, essv6511082, essv6133327, essv6041340, essv5720950, essv6319071, essv6499697, essv5896697, essv5614255, essv5545681, essv5610131, essv6210018, essv6563395, essv6374975, essv5617820, essv5439309, essv5889455, essv5742720, essv5440469, essv5463915, essv5825457, essv5917461, essv6103423, essv5528180, essv6285705, essv6026225, essv6426197, essv5707123, essv5643720, essv6039651, essv6455873, essv6126198, essv6054087, essv6251021, essv6072497, essv6514517, essv5851321, essv5714576, essv5940832, essv5860742, essv6196617, essv6176018, essv5840341, essv5768870, essv6291064, essv5605088, essv5849095, essv6297156, essv6057423, essv5576109, essv6377283, essv5733828, essv6340830, essv6006290, essv6457330, essv6121067, essv5464703, essv6527691, essv6521816, essv5617659, essv6279423, essv5395931, essv6551976, essv5817514, essv5529497, essv6294070, essv5905243, essv6241492, essv6120421, essv5663851, essv6005875, essv5545349, essv6311769, essv5423534, essv6200741, essv6376794, essv6321238, essv6436042, essv5563923, essv6049834, essv5954127, essv6360852, essv5713937, essv6056030, essv6356874, essv6433774, essv6357058, essv6586450, essv6183705, essv6429829, essv5483494, essv6577874, essv6403151, essv6067704, essv6238950, essv5907114, essv6005807, essv5985668, essv5950433, essv6180698, essv6353282, essv5799528, essv5546699, essv6534472, essv5857486, essv5941821, essv5939705, essv6278480, essv6077994, essv5783642, essv5443781, essv5931346, essv6468486, essv6069802, essv6014573, essv6471075, essv5622876, essv6471428, essv6101066, essv5988235, essv6491100, essv5781065, essv6081722, essv5756970, essv5509422, essv6151151, essv6521944, essv6187174, essv5692814, essv5532422, essv5540008, essv5580711, essv6203633, essv5793249, essv5567182, essv5825076, essv5473069, essv5780526, essv5423001, essv5815301, essv5574229, essv6297022, essv5887729, essv5838216, essv6497146, essv5936279, essv6521481, essv5896009, essv6231031, essv5610113, essv6172491, essv6024061, essv5688613, essv6408265, essv6318499, essv6311494, essv6243487, essv6326743, essv6331331, essv6229266, essv6255402, essv5769299, essv5509304, essv6307716, essv5770196, essv6402673, essv6315611, essv6200550, essv5960283, essv6176095, essv5514923, essv6200686, essv5698160, essv6336474, essv5522695, essv5469620, essv6543249, essv5901495, essv5832997, essv6070712, essv6025358, essv6533545, essv5716519, essv5521087, essv5860415, essv5941970, essv5458983, essv6298860, essv5561868, essv6002951, essv5511492, essv5559162, essv5918998, essv6102258, essv6216659, essv5839165, essv5428715, essv6307778
SamplesNA20761, HG00650, HG01173, HG00143, HG00608, NA19909, NA20508, NA19664, HG00242, HG00559, NA18565, NA12843, NA20752, NA18999, NA19684, NA18530, NA18959, NA18616, HG01461, NA18563, HG00641, HG00138, HG01350, NA18567, NA18960, HG01365, HG00537, NA18949, HG00512, NA12275, NA19720, HG01080, NA20518, NA20812, HG00325, NA11932, HG00534, HG00705, NA19722, NA18990, HG01198, NA18557, HG01048, HG01133, HG00326, NA20757, NA18539, NA19921, NA20753, HG01124, NA18538, NA19056, NA19670, HG00557, HG00657, NA20810, NA20314, NA19663, NA19081, HG01498, HG00275, NA12718, NA20519, NA18572, NA18948, NA18534, NA18981, NA18548, NA18537, NA19654, HG00250, NA19084, HG00690, HG00531, HG00331, NA18553, HG01497, NA19761, HG00146, NA12144, NA18570, HG00126, NA18593, NA12546, NA18541, NA18974, NA19729, HG00611, NA19652, HG00336, HG00625, NA18564, NA19072, HG00580, HG00734, NA20527, HG01375, NA20792, NA20778, NA19679, HG01137, NA18943, NA19783, HG00662, NA18615, HG01489, HG01342, HG00620, NA19785, HG00259, NA19779, NA20510, NA18609, NA19780, NA18983, HG00274, NA18989, NA11892, HG00171, NA12890, NA19074, HG00581, NA18620, HG00626, HG00114, HG01441, NA19648, HG00536, NA11995, HG01359, NA18980, NA18561, NA19704, HG01389, HG01374, HG00306, NA19092, HG01465, NA19057, NA18596, HG00566, NA18526, NA12155, HG01140, NA12341, NA20537, HG01250, NA19746, NA19076, NA19005, HG01366, HG00501, NA19762, NA18595, HG01488, HG00702, NA19723, NA18982, NA18635, NA18619, NA20769, NA12348, HG00634, NA18942, NA12283, NA19771, NA19088, NA19054, HG00369, HG00270, NA19782, NA19681, HG01110, HG00590, NA18611, NA12761, HG01455, NA06984, HG00236, HG01495, HG00262, NA19719, NA18560, NA19731, NA19075, NA18617, HG01176, HG01440, NA19002, HG00637, HG00530, HG01136, NA18544, HG00560, NA18613, NA19657, NA19707, NA19077, HG00701, HG01515, HG00436, NA19788, NA18976, NA20770, HG00708, HG00635, NA18566, NA19774, NA19000, NA19655, NA18856, HG01383, HG00525, NA19756, NA19160, NA18634, HG01204, NA18576, NA18546, HG00124, NA20522, NA18542, NA20801, NA12716, HG01190, NA18559, HG00565, NA18950, NA19732, HG01253, NA20804, NA19773, NA19786, HG00125, NA19759, HG00578, HG01491, NA19060, NA18987, HG00656, HG01055, NA12830, NA19726, NA18552, HG01251, NA19661, NA18984, NA19755, NA19004, NA19758, HG00554, NA18549
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662140
Frequency
Sample Size1151
Observed Gain0
Observed Loss252
Observed Complex0
Frequencyn/a


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