A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615240



Internal ID6655439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140583238..140584181hg38UCSC Ensembl
Innerchr7:140583240..140584179hg38UCSC Ensembl
Outerchr7:140583236..140584183hg38UCSC Ensembl
chr7:140283038..140283981hg19UCSC Ensembl
Innerchr7:140283040..140283979hg19UCSC Ensembl
Outerchr7:140283036..140283983hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12984846, essv12984858, essv12984884, essv12985005, essv12985020, essv12984912, essv12984845, essv12984975, essv12985058, essv12985050, essv12985068, essv12984997, essv12984913, essv12985002, essv12984976, essv12984955, essv12984987, essv12985048, essv12985054, essv12984874, essv12984946, essv12984914, essv12984977, essv12985022, essv12984906, essv12984982, essv12984984, essv12984966, essv12985023, essv12985037, essv12984888, essv12984878, essv12985034, essv12984918, essv12985075, essv12984898, essv12984937, essv12984994, essv12984981, essv12984932, essv12984904, essv12985077, essv12984903, essv12984993, essv12984852, essv12984876, essv12985052, essv12984824, essv12984826, essv12984854, essv12984842, essv12984860, essv12985080, essv12984862, essv12984995, essv12984838, essv12984835, essv12984866, essv12984870, essv12984938, essv12984950, essv12984965, essv12984837, essv12984949, essv12985000, essv12985038, essv12984827, essv12984952, essv12984986, essv12984907, essv12984992, essv12984973, essv12985006, essv12984825, essv12985079, essv12984922, essv12984897, essv12984923, essv12984970, essv12984971, essv12985011, essv12984927, essv12985013, essv12985064, essv12984864, essv12985042, essv12984868, essv12984871, essv12985081, essv12984892, essv12984999, essv12984963, essv12984980, essv12985029, essv12985086, essv12984877, essv12985041, essv12984921, essv12985061, essv12985071, essv12985018, essv12984834, essv12984894, essv12984974, essv12984901, essv12985060, essv12984857, essv12984983, essv12984931, essv12984885, essv12984896, essv12985010, essv12984872, essv12984869, essv12984848, essv12984954, essv12985031, essv12985035, essv12984883, essv12984839, essv12985021, essv12985067, essv12984881, essv12985073, essv12984968, essv12984843, essv12985025, essv12984917, essv12984962, essv12985016, essv12984935, essv12985017, essv12984933, essv12984841, essv12985008, essv12985024, essv12984836, essv12984920, essv12984991, essv12984855, essv12984882, essv12984948, essv12985026, essv12984902, essv12984828, essv12984926, essv12985036, essv12984832, essv12984853, essv12985003, essv12984847, essv12985028, essv12984830, essv12984964, essv12985063, essv12984850, essv12984998, essv12984944, essv12985072, essv12984990, essv12985012, essv12984875, essv12984895, essv12984943, essv12984859, essv12984969, essv12984941, essv12984951, essv12984867, essv12985009, essv12985053, essv12984934, essv12985039, essv12984925, essv12984940, essv12984930, essv12984939, essv12984959, essv12984909, essv12984947, essv12985040, essv12984849, essv12985001, essv12985044, essv12984831, essv12984890, essv12984985, essv12985015, essv12985066, essv12984863, essv12984865, essv12985055, essv12984889, essv12984919, essv12985043, essv12984929, essv12985070, essv12984956, essv12985033, essv12984908, essv12985076, essv12984844, essv12984916, essv12984880, essv12984945, essv12984829, essv12984911, essv12984936, essv12985014, essv12985069, essv12984910, essv12984957, essv12985032, essv12984840, essv12985045, essv12984861, essv12985065, essv12985084, essv12984851, essv12985019, essv12984958, essv12984879, essv12984899, essv12984978, essv12985078, essv12984928, essv12985027, essv12985062, essv12985074, essv12985046, essv12984900, essv12985085, essv12985082, essv12985057, essv12985030, essv12985049, essv12984905, essv12984961, essv12984893, essv12984972, essv12985059, essv12985056, essv12984856, essv12984873, essv12984989, essv12984960, essv12985007, essv12984979, essv12984988, essv12984915, essv12984996, essv12985047, essv12985051, essv12984891, essv12984886, essv12984953, essv12985004, essv12984942, essv12984833, essv12984887, essv12984924, essv12984967, essv12985083
SamplesHG02470, HG02879, HG03136, NA19146, NA19207, NA18870, HG02427, HG03963, HG03058, HG03121, HG03832, HG03120, NA19436, NA20874, HG02810, HG03567, NA18520, HG02330, NA19904, HG03521, HG01896, NA19222, NA19819, NA18933, NA19404, HG01055, HG01988, NA19437, HG03342, HG02816, HG03478, NA19209, HG03437, HG02799, HG02983, HG03066, HG03304, HG02759, HG02255, NA19023, NA19435, NA20294, HG02450, HG02979, NA18516, NA19317, HG03133, HG03046, HG03265, HG03212, NA19795, HG03571, HG02887, NA20889, HG01883, HG02944, NA19920, HG01049, HG02508, HG03111, HG00553, HG03048, NA19379, NA19834, HG01958, HG02322, HG03401, HG03538, NA19257, NA19474, HG03796, HG03378, HG02433, HG01551, NA18873, NA19037, NA19438, HG02973, NA18868, NA19143, NA20340, HG02895, NA19117, NA21106, HG03652, HG03558, NA19028, HG03162, HG03955, HG02588, NA19463, NA19428, HG03461, NA19383, NA19982, HG04210, NA18934, NA19239, NA19314, HG02634, HG03193, HG03451, NA20356, HG03484, NA19390, HG01305, HG04164, HG01402, HG02554, NA19900, HG02577, HG03578, HG03442, HG03436, HG03439, HG03926, NA18856, HG02861, HG02643, HG03241, NA19351, HG03445, HG03464, HG03100, NA19256, HG01879, HG03565, HG02595, HG03166, NA19457, HG03114, HG01986, NA19042, NA19316, NA19324, NA19213, HG03731, NA19247, NA19360, HG03085, HG02537, HG03195, NA19372, HG02054, HG02768, HG03922, NA19393, NA19024, HG02562, NA19206, NA19384, HG03473, NA18498, NA19102, HG03547, HG02594, HG02804, NA18510, HG03472, HG02439, HG02573, HG02623, HG04080, HG03097, HG03514, HG03096, HG03366, HG03518, NA19347, HG02771, NA19332, HG03069, HG03072, HG03428, HG04212, HG02852, HG03433, NA19131, NA19159, NA19328, NA18910, HG02536, HG03297, HG03577, NA19711, HG02614, NA19462, HG03115, NA19141, HG02881, HG02309, HG03028, HG03108, NA21101, HG02947, HG03224, HG03446, NA19921, NA19376, HG01393, NA18909, HG02635, NA19391, HG03499, NA20276, NA19025, NA19394, NA19403, HG03045, HG02629, HG03267, HG03367, HG03556, NA19434, NA19099, NA19446, HG03105, NA18879, NA19475, HG03123, NA19452, HG03476, HG03240, HG02465, HG02589, HG03074, HG03343, NA18917, HG03259, HG02679, NA19198, NA19118, NA19315, HG02642, HG03830, HG01985, HG03388, HG00641, HG03802, NA19113, NA19350, HG02555, HG02620, HG03515, HG02051, HG03517, HG02332, HG02860, HG02095, HG02820, HG03460, NA19466, NA20339, HG02769, HG03095, HG03091, HG02282, HG03163, HG02666, HG03370, NA20281, HG02890, NA19137
Known GenesDENND2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615240
Frequency
Sample Size2504
Observed Gain0
Observed Loss263
Observed Complex0
Frequencyn/a


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