A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638990



Internal ID7025774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72046969..72065087hg38UCSC Ensembl
chr16:72080868..72098986hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3818119
hg1918119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv530e214
Supporting Variantsessv15515008, essv15514956, essv15514982, essv15514966, essv15514919, essv15514993, essv15514953, essv15514874, essv15514866, essv15514904, essv15515021, essv15515016, essv15514882, essv15514858, essv15514958, essv15514921, essv15514884, essv15514896, essv15514936, essv15514901, essv15514877, essv15514978, essv15514969, essv15514979, essv15514952, essv15514903, essv15514905, essv15515035, essv15514994, essv15515010, essv15514946, essv15514890, essv15514968, essv15514899, essv15515041, essv15514870, essv15514986, essv15515042, essv15514983, essv15514939, essv15514864, essv15515022, essv15514997, essv15515011, essv15514910, essv15514880, essv15515043, essv15514996, essv15514879, essv15514898, essv15514965, essv15514909, essv15515044, essv15514977, essv15514975, essv15514960, essv15514915, essv15514957, essv15514886, essv15515038, essv15514912, essv15515004, essv15514907, essv15515037, essv15514894, essv15514928, essv15515000, essv15514948, essv15515026, essv15514875, essv15514924, essv15515005, essv15514930, essv15514867, essv15514888, essv15514895, essv15515024, essv15515014, essv15514967, essv15514984, essv15514892, essv15514950, essv15515031, essv15514951, essv15514980, essv15514949, essv15514941, essv15514889, essv15514955, essv15514962, essv15514925, essv15514893, essv15515018, essv15514923, essv15514985, essv15515025, essv15515023, essv15514911, essv15514897, essv15515007, essv15514995, essv15514959, essv15514900, essv15515019, essv15515009, essv15514999, essv15514974, essv15515006, essv15515001, essv15514938, essv15515013, essv15515017, essv15514992, essv15514943, essv15514927, essv15514929, essv15515032, essv15514908, essv15515028, essv15514891, essv15514987, essv15514971, essv15514922, essv15514973, essv15515020, essv15514917, essv15514861, essv15514947, essv15514860, essv15514989, essv15514868, essv15514906, essv15514902, essv15514932, essv15514970, essv15514945, essv15514916, essv15514862, essv15514920, essv15514964, essv15514976, essv15514914, essv15514871, essv15514918, essv15514872, essv15514942, essv15514934, essv15514931, essv15514885, essv15515002, essv15514878, essv15514991, essv15514961, essv15515029, essv15515003, essv15514940, essv15515033, essv15515015, essv15514933, essv15514913, essv15514881, essv15514972, essv15514869, essv15514935, essv15514998, essv15515040, essv15514981, essv15515034, essv15514859, essv15515036, essv15514988, essv15514926, essv15514944, essv15514873, essv15515027, essv15515012, essv15514963, essv15514883, essv15514990, essv15514954, essv15514863, essv15515039, essv15514876, essv15514865, essv15515030, essv15514887, essv15514937
SamplesHG02574, HG01485, NA20339, NA19141, HG03366, NA19222, HG02610, HG03484, HG02628, NA19703, HG02583, NA18508, HG03163, HG01885, HG02973, NA19332, HG03057, HG03241, HG02836, NA19020, NA18877, HG02012, HG03130, HG02323, HG03521, HG03298, HG03100, NA18504, NA20332, HG03126, HG03515, HG03172, NA18870, HG02895, NA20359, HG03478, NA19446, HG03572, HG03133, NA18519, HG03086, HG02621, HG03135, NA20320, HG02756, HG02860, NA19197, NA19771, HG02054, NA20287, HG03040, HG01134, HG02703, HG01067, NA19383, HG03556, HG02461, NA19238, HG03045, HG02885, HG02642, NA19172, HG02420, NA19159, HG03352, NA19036, HG02571, HG03380, HG02502, HG03073, NA19209, HG02715, HG03369, NA19027, HG03270, HG02943, HG02442, HG03120, HG03160, NA19707, NA19175, NA19462, NA19984, HG01162, NA19184, NA19455, NA19043, HG02554, HG02144, HG02953, HG01142, HG03575, HG02014, HG02968, HG01880, HG02497, HG01889, HG03124, HG03311, HG03563, NA19449, HG03202, HG02445, NA19042, NA18499, NA18856, NA19113, NA18912, HG02309, HG02881, HG02283, HG03024, NA19099, HG02635, HG02586, HG02896, HG02594, HG02568, HG01956, HG02722, NA19401, HG02667, NA19390, NA19108, NA18517, HG02759, NA19712, HG03539, NA19473, HG02983, HG01915, HG03117, NA20351, NA20362, NA18865, NA19334, HG03259, HG02982, HG02941, NA19428, NA19324, HG02839, HG02464, HG03419, HG02814, HG01342, HG03103, HG02771, NA19248, HG03112, HG02974, HG02095, HG03442, HG02970, NA19223, HG03313, HG02646, HG03049, HG02053, NA19474, HG02107, HG03063, NA20289, HG03351, HG02768, NA19102, HG02679, HG02013, HG03401, HG01914, HG01883, NA19121, HG02763, NA19430, NA18505, HG03376, HG02465, HG03072, NA18522, HG02343, HG03439, NA19346, NA19431, HG03265, HG03271, HG03196, HG02760
Known GenesHP, HPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638990
Frequency
Sample Size2504
Observed Gain187
Observed Loss0
Observed Complex0
Frequencyn/a


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