A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670285



Internal ID9936390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210549108..210551536hg38UCSC Ensembl
chr1:210722452..210724880hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382429
hg192429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5449941, essv5993859, essv6444616, essv6256628, essv6027635, essv5540536, essv5558670, essv5878693, essv5745193, essv5696341, essv6230980, essv6545870, essv5736550, essv5680078, essv6470551, essv5852604, essv5657986, essv5536724, essv6412865, essv6054682, essv5636809, essv5504806, essv6321205, essv6317631, essv6024867, essv6304811, essv5523667, essv6192160, essv5445691, essv6329926, essv5706666, essv6265862, essv6403468, essv6118067, essv6571656, essv6233518, essv6558168, essv5656710, essv6083276, essv6016859, essv5767214, essv5483659, essv5874657, essv5648384, essv5470325, essv6164889, essv5530146, essv6540835, essv5494120, essv5624740, essv5739408, essv5797832, essv5714312, essv6515722, essv6409555, essv6132332, essv5782721, essv6276471, essv5485724, essv6417161, essv6309882, essv5921194, essv5539161, essv6005448, essv6594853, essv6284844, essv6018690, essv6169148, essv5637701, essv5512135, essv5596220, essv5808965, essv5810434, essv5713074, essv6485368, essv5632836, essv5769094, essv5480114, essv5938776, essv6003954, essv5553552, essv5840688, essv6204633, essv5800659, essv6506048, essv5767619, essv6565577, essv6235685, essv5731734, essv6031250, essv5761922, essv5471242, essv5652273, essv6203012, essv5593790, essv5559656, essv5623615, essv6033392, essv6007535, essv5725216, essv6270101, essv6407887, essv5515403, essv5737967, essv6115241, essv5768529, essv6008184, essv5739701, essv6079387, essv5829787, essv6115073, essv6109278, essv6499891, essv5709044, essv6362482, essv6463771, essv5432131, essv6515885, essv6219323, essv5560388, essv5636376, essv6205376, essv5491790, essv5552091, essv5993698, essv6281383, essv5907096, essv6312970, essv5952506, essv5478601, essv6355513, essv6107322, essv6534363, essv5871233, essv5454647, essv5742902, essv5911333, essv6150787, essv5830801, essv6046676, essv5574698, essv5898697, essv5551151, essv5872998, essv6027163, essv6104650, essv5844173, essv6083089, essv5964124, essv6075081, essv5562861, essv5807444, essv5967554, essv6578606, essv6108888, essv6189162, essv6412669, essv6557403, essv6465339, essv5674969, essv5545004, essv5413226, essv6015979, essv5654995, essv5730374, essv5812095, essv5899731, essv6144918, essv5479524, essv5531796, essv5931114, essv5474823, essv5904814, essv5501907, essv6183607, essv5716509, essv6063704, essv5583673, essv6376631, essv5441548, essv5763627, essv6168440, essv5525670, essv5564473, essv5543124, essv5548416, essv5459031, essv5889774, essv5975316, essv5453002, essv6086056, essv5760029, essv5825946, essv5708919, essv5408519, essv5467400, essv6211390, essv5516731, essv6108343, essv6436902, essv5951686, essv6237450, essv6389553, essv6391536, essv5533644, essv5804923, essv6109063, essv5982955, essv5864898, essv5502886, essv6140723, essv5487528, essv6150447, essv5432280, essv6542647, essv5811527, essv6545881, essv5614319, essv5507571, essv5595465, essv5526031, essv5428064, essv6278980, essv6453519, essv6126702, essv5850272, essv6091738, essv6474706, essv6567784, essv5579516, essv5859798, essv5614341, essv6041923, essv6308588, essv5950680, essv5694258, essv5995686, essv5488267, essv6544463, essv6537025, essv5438748, essv6134430, essv5915348, essv6193477, essv6458278, essv5686438, essv5650018, essv6469144, essv6291120, essv5963903, essv6015455, essv5842582, essv6132444
SamplesNA12383, NA18502, NA19701, HG00650, HG00542, NA19058, HG01462, HG00608, NA18621, NA18861, NA10851, HG00559, NA20783, NA18999, NA18959, NA18616, HG00449, HG00654, NA20356, NA19067, HG00693, NA18988, NA18627, HG00663, HG00641, NA18940, HG00589, NA19315, HG01177, HG01168, NA18558, NA18547, NA18960, NA18618, NA18574, NA11918, HG00334, NA19079, NA18949, NA19720, HG01080, NA20775, NA18868, HG00534, NA19235, NA19172, NA18990, HG01198, HG01048, NA18985, HG00323, HG00137, NA18951, NA18605, NA19908, HG00443, NA18538, NA19070, NA19056, NA19403, NA18933, HG01095, HG00657, NA19717, NA19663, NA19081, HG01498, NA18579, NA18572, HG01149, NA18948, NA18534, NA19064, NA18548, HG01047, NA19654, NA18573, HG00690, HG00404, HG00531, HG00331, HG00684, NA18532, NA18553, NA19761, NA19009, NA19682, NA18570, NA18541, HG01075, NA19012, NA18974, NA18953, NA19729, NA18517, HG00625, NA18564, NA19747, NA18628, NA19444, NA19010, NA20790, HG00473, HG01137, NA18615, NA18610, HG00620, NA18501, HG00614, HG00478, NA18631, NA19779, NA19716, NA19093, NA18636, NA18609, NA20786, NA19770, HG00280, NA19900, HG00274, NA20502, NA19430, NA18989, HG01111, HG00628, NA18968, NA19463, NA19063, NA18612, HG00581, HG00403, HG01060, NA19648, HG01098, NA19055, HG00536, NA19397, NA18592, NA18561, NA19704, NA18599, NA18917, HG00699, NA18545, NA19819, NA18596, HG00566, NA18606, HG00179, NA18967, NA19068, NA19746, NA19396, NA19076, NA19005, NA18944, NA19382, NA18489, NA19762, NA19448, HG00702, NA19723, NA18635, NA20769, HG00634, HG00610, HG01354, NA19313, NA19088, NA19138, NA18498, NA18964, HG00590, NA18611, HG01134, HG01067, NA18874, NA18617, NA19317, NA19087, NA19189, NA19456, NA18975, NA18973, HG00530, HG00419, NA18614, HG01183, HG01136, HG00560, NA18613, NA19657, HG00183, HG01187, HG00596, NA20505, NA19077, HG00428, NA19347, HG00653, HG00577, NA18956, HG00701, NA20536, NA19391, NA18516, HG00584, NA18637, HG00500, NA20126, NA19658, NA18976, NA18630, HG00708, HG00635, HG01390, NA20299, HG01197, HG01383, HG00613, HG00525, NA18536, NA18945, NA19436, NA18576, HG00476, NA18542, NA18909, NA18952, NA18941, HG01494, HG00607, NA19439, NA19085, NA19398, NA19078, HG00707, HG00672, HG00578, NA18987, HG00656, HG01055, NA18552, NA18984, HG01378, NA19004, NA18522, NA18549, HG01191, HG00437, NA18562, NA18965
Known GenesHHAT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670285
Frequency
Sample Size1151
Observed Gain0
Observed Loss253
Observed Complex0
Frequencyn/a


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