A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667765



Internal ID9587184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89010225..89012941hg38UCSC Ensembl
chr1:89475908..89478624hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382717
hg192717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6298354, essv6132079, essv5945947, essv5815446, essv6121349, essv6457244, essv6181995, essv5715783, essv6112901, essv5744605, essv5680845, essv5761625, essv5607156, essv6130930, essv6513598, essv6558615, essv6102948, essv5396574, essv6288362, essv6501283, essv5641475, essv6523157, essv5490620, essv6441201, essv6439287, essv5488320, essv5894773, essv5948121, essv5413624, essv5613856, essv5423372, essv6249482, essv5737915, essv5565574, essv6487457, essv5921232, essv5426705, essv6323385, essv5726109, essv6499028, essv5886372, essv5926597, essv5419531, essv6384683, essv6504202, essv5969850, essv5588673, essv5724919, essv5455285, essv5834529, essv5596579, essv6509784, essv5827137, essv5696350, essv5529181, essv5841712, essv5595559, essv6548620, essv6235615, essv5427569, essv6432444, essv6373729, essv6013324, essv5876823, essv5677991, essv6571534, essv5414912, essv6021369, essv5731860, essv6088727, essv5794386, essv5653546, essv6534316, essv6412195, essv6136860, essv5712662, essv5841351, essv5887767, essv5405622, essv5788327, essv5998235, essv5955716, essv5470046, essv5452612, essv5734076, essv5939064, essv6411755, essv6537240, essv6263861, essv5545413, essv6151273, essv6174323, essv5777083, essv5753689, essv5655615, essv5751027, essv6358218, essv5642850, essv6394741, essv6188123, essv6454750, essv6127073, essv6085645, essv6276927, essv5497211, essv6230051, essv5982827, essv5469701, essv6587255, essv6486980, essv6018116, essv5747953, essv5670646, essv5456786, essv6214627, essv6409165, essv5821950, essv5637607, essv6080417, essv5973803, essv6146828, essv5668559, essv6089861, essv6525422, essv5994076, essv5931242, essv5888685, essv6293122, essv5438121, essv6316379, essv6487501, essv6043009, essv6219366, essv6552196, essv5414534, essv6092630, essv5541725, essv6224599, essv5719836, essv5853064, essv6333624, essv6062013, essv5958003, essv6444270, essv5854385, essv6165395, essv6080925, essv6104107, essv5500118, essv6488060, essv5586011, essv6132333, essv6117776, essv6049948, essv6273050, essv5651701, essv5564112, essv5728970, essv6272445, essv6266014, essv5919398, essv6388308, essv5458949, essv5762322, essv6256379, essv6266363, essv5892546, essv6500459, essv6590016, essv5419901, essv6533859, essv6175352, essv5865122, essv6161054, essv5646461, essv5493579, essv6321987, essv5678617, essv6579594, essv6461092, essv5950229, essv6197212, essv6190806, essv6130817, essv5775575, essv6364659, essv5978688, essv6575587, essv6064124, essv5932339, essv5936298, essv6367829, essv6594627, essv6267774, essv5962251, essv6120992, essv5996959, essv5536990, essv6509410, essv5999582, essv5855082, essv6069351, essv5619742, essv6303253, essv6586475, essv5798753, essv6088637, essv6547707, essv6596288, essv5698348, essv6570914, essv5768652, essv5834836, essv5659659, essv5519559, essv6308028, essv6514127, essv5953915, essv5643075, essv5519277, essv5614113, essv6456511, essv5678293, essv6110731, essv5444675, essv6193921, essv5920825, essv6575553, essv5797000, essv6327534, essv5538321, essv5946455, essv5824529, essv6126874, essv6108137, essv5962871, essv6371480, essv6193358, essv5411891, essv5722883, essv6425871, essv6296631, essv5696938, essv5514398, essv6540725, essv6057618, essv5618602, essv6021512, essv6078302, essv5927813, essv6179068, essv5477941, essv5840033, essv6205954, essv6351908, essv5876294, essv5887615, essv6537331, essv5600912, essv5632642, essv5729974, essv5677136, essv6245499, essv5916463, essv5590075, essv5863251, essv5573115, essv6508835, essv6421918, essv5605910, essv6273528, essv5584934, essv5833393, essv6428840, essv6290804, essv5798694, essv6117786, essv5828565, essv5675019, essv6051517, essv6064400, essv6401196, essv6317872, essv6082985, essv5937567, essv5633033, essv6403768, essv5523938, essv5705609, essv5841536, essv6419566, essv5509039, essv6142534, essv5724439, essv6480146, essv5402463, essv6242949, essv5900640, essv5616272, essv5789561, essv5584910, essv5428762, essv5516296, essv6517113, essv6547582, essv6353433, essv5528410, essv5693372, essv5763020, essv6208219, essv5834261, essv6243860, essv6316769, essv5847052, essv5727312, essv6120507, essv6273849, essv6155947, essv6281691, essv6278816, essv6062897, essv6353819, essv6188822, essv5539485
SamplesNA12383, HG00542, HG01173, NA12842, NA19703, HG00142, NA12286, NA20508, NA18508, NA10851, NA12273, NA18565, NA12414, NA12843, NA11920, HG01066, HG00151, NA20816, HG00233, NA20802, HG00181, NA12751, NA12340, NA19684, NA18959, HG00737, NA18616, HG01461, NA19443, HG01051, NA19920, NA20771, NA12750, NA19067, NA18602, NA07346, HG00641, HG00138, HG00122, NA20798, NA20589, NA19678, HG01167, HG01168, NA18558, HG01492, NA19062, NA11918, NA07347, HG01083, HG01365, HG00334, HG00185, HG00537, HG00243, HG00158, NA11930, NA20759, NA12275, HG01069, HG01080, HG01519, NA20812, HG00325, NA11932, NA12044, HG00534, NA19722, NA18990, NA18557, HG01048, NA20342, HG00323, HG00253, NA18539, NA20753, HG01124, NA12777, NA18951, NA12489, NA18538, HG00266, HG00282, NA12878, HG00732, NA20521, HG01095, NA20760, HG00368, NA19663, HG00344, NA18572, HG00692, NA18548, NA18537, HG01102, HG00324, NA18573, NA11919, HG00250, NA18626, HG00690, HG00404, HG00531, NA20581, NA12829, NA19750, NA06989, HG00140, NA19761, HG00152, NA19682, NA12144, HG00463, NA19469, HG00126, HG01107, NA19012, NA18953, NA20799, HG00611, HG00254, HG00336, NA20276, NA18564, HG00353, NA20815, HG00580, NA12272, HG00734, HG01174, NA20790, NA20530, NA20527, HG01375, NA20792, NA20778, NA19470, HG01113, HG01137, HG00116, NA19083, NA18943, NA19783, NA12763, NA18615, NA18610, HG00620, NA06994, HG00513, HG00478, NA19785, NA18631, NA19779, HG00342, NA18636, NA20786, HG00112, NA19770, HG00280, NA11843, NA19080, NA19780, HG00377, HG00595, HG00628, HG00171, NA12890, NA12006, NA18623, NA12154, HG01437, HG00553, NA19431, NA18577, NA11832, HG00626, HG00096, NA19648, NA11830, NA19700, HG01098, HG00231, NA11995, HG00361, HG01359, NA19914, NA19332, HG01079, HG01188, NA11933, NA18599, HG01389, NA18603, NA12045, HG00318, HG01465, HG00103, NA18545, NA19819, NA19393, NA12004, NA20805, HG00566, NA12058, HG00150, NA18526, NA12400, HG01140, NA12341, HG01250, NA19746, NA19076, NA20796, HG01070, HG00501, HG01488, HG00173, NA19723, NA18635, NA19916, NA20769, HG00634, HG00346, HG01354, NA19313, NA12287, HG00247, NA19054, HG00270, NA19782, NA19681, NA20336, NA18964, NA18611, HG00277, HG01455, NA19651, HG00120, NA18874, HG00106, NA20819, HG00262, HG01072, NA18560, NA19087, NA12889, HG00427, HG00637, NA12828, NA20533, HG00264, HG00108, HG00260, NA19007, NA11831, HG00543, HG00133, HG01183, HG01136, HG00560, NA19657, NA19082, NA20787, HG01384, NA12342, NA19462, NA19347, HG00190, HG00653, NA18637, HG00619, NA19776, HG00708, NA18566, NA19774, HG01197, NA12892, HG00117, HG00613, HG00321, NA20282, HG00276, NA20828, NA19756, NA18634, NA19675, NA19436, NA20765, NA18546, HG00124, HG00119, NA18535, HG00285, NA19749, HG00357, NA19773, NA19334, NA19467, NA20803, NA07037, NA19085, NA06986, NA19818, NA19759, HG00111, NA18971, HG00312, NA19438, NA20807, HG00131, HG00343, HG00372, HG00252, NA07056, NA19004, HG01082, HG01097, HG00554, NA18549, HG01191, HG01061, HG00437, NA18965
Known GenesGBP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667765
Frequency
Sample Size1151
Observed Gain0
Observed Loss324
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer