A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674681



Internal ID9594100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172087602..172087927hg38UCSC Ensembl
chr5:171514606..171514931hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5851829, essv5884733, essv5893899, essv6569645, essv6337088, essv6055196, essv6440914, essv6366229, essv5764674, essv6131460, essv6585074, essv5897333, essv5609970, essv5764102, essv6463882, essv6435981, essv5531231, essv5676761, essv5796681, essv6311942, essv6229228, essv5788996, essv6561120, essv5914012, essv6221260, essv5580854, essv5882583, essv6574557, essv5671644, essv6506186, essv5725377, essv6274467, essv6247758, essv6592062, essv6313911, essv6195378, essv6142483, essv6042669, essv5436133, essv6048954, essv5453283, essv6088893, essv6029462, essv5402246, essv6144673, essv6292733, essv5814120, essv6446071, essv6582114, essv5874742, essv6301340, essv6101146, essv6594756, essv5883591, essv6429033, essv5886871, essv6580607, essv6568455, essv5719245, essv6043416, essv6357556, essv5541273, essv5584958, essv6524947, essv6214066, essv5430972, essv6051614, essv6514247, essv5983801, essv5607923, essv6135583, essv6083300, essv5410509, essv5865575, essv5542446, essv5718913, essv5619467, essv5941317, essv6124199, essv6505802, essv5599331, essv6032348, essv6098860, essv6100743, essv5569982, essv5770980, essv5710835, essv6068629, essv5900331, essv6594828, essv6509570, essv5650417, essv5658786, essv6250227, essv5777256, essv5924387, essv6591339, essv5841327, essv5982148, essv5401907, essv6576790, essv5604519, essv5894387, essv6589710, essv6386964, essv5570995, essv6363796, essv5563412, essv6030169, essv6221669, essv6500425, essv6055215, essv6541054, essv6162094, essv6012092, essv5452319, essv6077694, essv6391564, essv5791376, essv6280189, essv6128361, essv6156398, essv5675572, essv6380462, essv5888092, essv6325625, essv6470714, essv5999369, essv5479009, essv6303994, essv6140170, essv5477594, essv5901319, essv5740732, essv6286895, essv5663333, essv5758434, essv5880357, essv6213332, essv6041981, essv6190161, essv5805929, essv6260194, essv5657521, essv6314600, essv5437207, essv6369383, essv5430796, essv6186271, essv5814430, essv6155505, essv6555998, essv5842971, essv5622053, essv5563822, essv5565525, essv6121787, essv5992738, essv6201370, essv5832594, essv5452938, essv5824077, essv5709648, essv6530414, essv6387449, essv5468512, essv5503398, essv6105908, essv6115802, essv6554180, essv5593324, essv5524009, essv5771000, essv5467106, essv6066408, essv6501014, essv5621704, essv5760711, essv5541912, essv6361663, essv5898636, essv5727332, essv6236949, essv6565829, essv6484488, essv5503794, essv5804053, essv5564774, essv6303696, essv5966259, essv6131983, essv5693119, essv5901850, essv6440690, essv6520014, essv5508217, essv6040704, essv5775224, essv5596047, essv5599816, essv5588481, essv5980815, essv5755679, essv6483427, essv6364138, essv5529215, essv5403195, essv5964516, essv6485181, essv6369244, essv5661520, essv6167068, essv6368806, essv6123076, essv6286078, essv6148817, essv6249838, essv6586043, essv5810638
SamplesHG00613, NA19137, NA18870, NA19248, HG01515, NA12154, NA12718, NA19152, NA19625, NA18861, NA19436, HG01440, NA19712, HG00257, HG00182, NA19904, NA19321, NA20809, HG01250, NA18534, NA18871, HG01072, NA12286, NA19819, NA18933, HG01055, NA18523, NA19114, NA07056, NA18874, HG01342, NA20510, HG00731, HG00245, NA18501, NA19093, NA19401, NA19311, NA20508, HG00160, NA20346, NA18511, NA19223, NA20299, HG01079, NA20294, NA19319, NA20296, NA19430, NA18516, NA19359, HG01492, NA19453, NA20800, HG01082, NA18953, NA18517, NA19920, NA20778, HG01350, NA18489, NA19144, NA19379, HG01167, NA12058, NA18507, NA19685, HG00404, NA19648, HG00335, NA19257, NA19682, NA19108, NA18488, NA19355, HG00319, NA19084, NA20322, NA18505, NA19472, NA19467, HG00156, NA18950, NA19147, NA19761, HG00353, NA19438, NA18868, NA19654, NA19463, HG01148, NA19428, NA18912, NA19383, HG00346, NA18934, NA18508, NA19239, NA20356, NA19652, NA19660, HG00140, NA12155, NA19443, NA07357, NA19471, NA19900, NA20757, HG00231, HG01124, NA18592, NA18856, NA20127, NA19398, NA19908, NA18637, HG00264, NA11995, NA18916, HG00243, NA12777, HG00357, NA19316, NA19324, NA19190, NA19247, NA19360, NA19313, NA19377, NA19380, NA19395, NA19153, NA07346, NA19129, NA19172, NA19189, NA19759, NA12892, NA19372, HG01191, NA19374, NA19393, NA20126, HG00732, NA12778, NA19373, HG00325, NA18498, NA18923, NA18486, NA19102, NA18522, NA18510, NA18502, HG01073, HG00239, NA19901, HG01069, NA18504, NA11892, NA18858, NA19347, HG01351, HG00513, NA19720, HG00329, NA20766, HG00246, NA19131, NA19159, NA19328, NA19382, NA19318, NA20813, HG01149, NA12891, NA19138, NA12272, NA18907, NA18909, NA06984, NA18867, NA19394, NA19403, NA20518, HG00138, NA19116, NA19434, NA19818, NA19099, NA20509, NA12878, NA19452, NA20317, NA19064, NA19225, NA18917, NA19160, NA18499, NA19371, NA19315, NA19130, NA19240, NA19346, HG01498, NA18853, NA19204, HG01374, NA19381, HG01377, NA19448, HG00345, NA19092, NA19200, NA19779, NA18519, NA07000, HG01354, NA19439
Known GenesSTK10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674681
Frequency
Sample Size1151
Observed Gain0
Observed Loss219
Observed Complex0
Frequencyn/a


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