A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676446



Internal ID9942551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172041326..172045391hg38UCSC Ensembl
Outerchr2:172041158..172045544hg38UCSC Ensembl
Innerchr2:172906237..172910119hg19UCSC Ensembl
Outerchr2:172906069..172910272hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384387
hg194204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv747e199
Supporting Variantsessv5535271, essv5866963, essv6164872, essv6176343, essv6514831, essv5507694, essv5828616, essv5576825, essv5811170, essv5590004, essv6291850, essv6070488, essv6480929, essv6380835, essv5468894, essv6433855, essv6039677, essv6344392, essv6211233, essv5430013, essv6160403, essv5753797, essv5506632, essv5843333, essv6050666, essv5476289, essv5416133, essv5528959, essv5593177, essv5495753, essv6476769, essv6253132, essv5733883, essv6479647, essv5910755, essv5952897, essv6501937, essv6272261, essv6541874, essv5601417, essv6486417, essv6459449, essv5668980, essv6572922, essv6380236, essv6065219, essv5756733, essv5406618, essv5913441, essv6252397, essv5556483, essv6075098, essv5447175, essv6214187, essv5504745, essv5906365, essv5603252, essv5896002, essv6484274, essv6018590, essv6499081, essv6388402, essv6088358, essv5754837, essv6558995, essv6318079, essv5561093, essv6487741, essv6359379, essv6284991, essv5984623, essv5445766, essv6064827, essv6001332, essv6075553, essv5750933, essv6061986, essv6491168, essv6152991, essv5950642, essv6169213, essv6205303, essv5602027, essv5820949, essv5451963, essv5741549, essv6066237, essv6234106, essv6262784, essv5853466, essv5457977, essv6059937, essv6354398, essv5684930, essv5638081, essv6518544, essv5679763, essv6507209, essv6424573, essv5517567, essv5604036, essv5700909, essv5758630, essv5810558, essv6104698, essv6087057, essv5663075, essv6217258, essv5619713, essv5454027, essv6250676, essv6085331, essv6547590, essv6374430, essv5454496, essv6451757, essv6544738, essv6071400, essv5623879, essv5792102, essv5728839, essv5488846, essv6537412, essv6490905, essv5710624, essv6380358, essv5728945, essv5689682, essv6131188, essv6135831, essv6062723, essv5701936, essv5494348, essv6579549, essv6241789, essv5454551, essv5614332, essv5602331, essv6049704, essv6100291, essv5672302, essv6098934, essv5889035, essv6235137, essv5569015, essv5408163, essv5712942, essv6597386, essv5918928, essv6037583, essv5573889, essv5836607, essv5583132, essv5498090, essv5544009, essv5497601, essv5788863, essv6022285, essv5961945, essv6332321, essv5436371, essv5796412, essv6248583, essv6154019, essv5835291, essv5691199, essv5465009, essv6509668, essv6228467
SamplesNA12383, NA20761, HG01441, NA12717, NA12842, HG00608, HG00142, HG00249, NA20508, NA19664, NA11829, NA18592, HG01359, NA20783, NA18565, HG01079, HG01374, HG01066, HG00151, HG00233, NA20802, HG00244, HG01465, NA20332, NA19684, NA12058, NA20808, NA20507, NA12400, NA12155, NA07357, NA20806, NA12341, NA19107, NA07346, NA19068, HG01250, NA19746, HG00138, NA19381, HG01350, NA20796, HG01366, HG00272, NA19382, NA20798, NA19678, HG01167, HG00702, HG01168, NA20769, NA12348, HG00736, NA18582, NA20768, NA20287, NA18611, NA20759, NA12275, HG01069, NA06984, HG01519, NA20812, NA19719, HG00232, NA19372, NA18560, HG01176, HG00705, NA19722, NA20811, HG00637, HG00159, HG00326, HG00178, NA20757, NA12748, HG00313, HG00188, HG00154, NA20800, NA19657, NA19437, HG00176, NA20787, HG01384, HG00557, NA12342, NA20521, NA20810, NA20760, NA20536, HG00320, HG00583, NA20519, NA19776, HG00324, HG00284, HG01073, NA19655, HG00373, NA11893, HG00684, NA20538, NA06989, NA12827, NA20282, HG00146, NA12144, NA20828, HG00141, NA20542, NA18593, NA12546, NA20534, NA19675, NA20765, HG01148, NA19003, NA20799, NA18632, NA20801, HG00119, NA18535, HG01190, NA19834, NA18952, NA19749, NA19747, HG00366, HG00353, HG00375, HG00734, HG01174, NA20790, NA20792, NA19311, NA20544, HG01108, NA20797, NA07037, HG01489, NA12347, HG00339, NA19818, NA19376, HG00111, NA18631, NA19779, HG00329, HG01055, HG00123, NA20510, HG00310, HG00131, NA19726, NA11843, NA20758, NA20826, NA18552, HG00372, NA19661, NA19755, HG01125, NA07000, HG00180, NA20754, NA20772, NA18620
Known GenesMETAP1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676446
Frequency
Sample Size1151
Observed Gain0
Observed Loss169
Observed Complex0
Frequencyn/a


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