A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600549



Internal ID6987591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55400563..55402854hg38UCSC Ensembl
Innerchr4:55400563..55402854hg38UCSC Ensembl
Outerchr4:55400513..55403206hg38UCSC Ensembl
chr4:56266730..56269021hg19UCSC Ensembl
Innerchr4:56266730..56269021hg19UCSC Ensembl
Outerchr4:56266680..56269373hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382292
hg192292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11438896, essv11438885, essv11438878, essv11438968, essv11438859, essv11438980, essv11438973, essv11438937, essv11438906, essv11438877, essv11438897, essv11439002, essv11438990, essv11438959, essv11438927, essv11438849, essv11438909, essv11438836, essv11438846, essv11438949, essv11438809, essv11438861, essv11438985, essv11438890, essv11438984, essv11438898, essv11438811, essv11438942, essv11438987, essv11438904, essv11438994, essv11438850, essv11438918, essv11438900, essv11438944, essv11438824, essv11438966, essv11438957, essv11438832, essv11438933, essv11438816, essv11438880, essv11438940, essv11438895, essv11438854, essv11438920, essv11438869, essv11438998, essv11438882, essv11438825, essv11438929, essv11438845, essv11438999, essv11438938, essv11438817, essv11438883, essv11438867, essv11438917, essv11438887, essv11438860, essv11438871, essv11438886, essv11438835, essv11438831, essv11438819, essv11438934, essv11438962, essv11438870, essv11438862, essv11438989, essv11438931, essv11438911, essv11438991, essv11438873, essv11438958, essv11438930, essv11438843, essv11438955, essv11438830, essv11438847, essv11438838, essv11438813, essv11438992, essv11438996, essv11438953, essv11438969, essv11438858, essv11438829, essv11438818, essv11438995, essv11438905, essv11438891, essv11438855, essv11438834, essv11438943, essv11438981, essv11438967, essv11438889, essv11438923, essv11438842, essv11438810, essv11438974, essv11438960, essv11438892, essv11438826, essv11438823, essv11438903, essv11438979, essv11438822, essv11438815, essv11438964, essv11438954, essv11438866, essv11438975, essv11438983, essv11438947, essv11438982, essv11438893, essv11438936, essv11438921, essv11438978, essv11438965, essv11438865, essv11438863, essv11438833, essv11438922, essv11438932, essv11438884, essv11438919, essv11438857, essv11438828, essv11438961, essv11438879, essv11438935, essv11438913, essv11438951, essv11438952, essv11438928, essv11438844, essv11438925, essv11438881, essv11438874, essv11438988, essv11438956, essv11438907, essv11438939, essv11438908, essv11438848, essv11438912, essv11438808, essv11438872, essv11438894, essv11438971, essv11438915, essv11438876, essv11438868, essv11438970, essv11438997, essv11438941, essv11438902, essv11438948, essv11438946, essv11438827, essv11438914, essv11438899, essv11438856, essv11438976, essv11438916, essv11438963, essv11438926, essv11439000, essv11438839, essv11438851, essv11438986, essv11438888, essv11438853, essv11438977, essv11438945, essv11438837, essv11438901, essv11438840, essv11438841, essv11438821, essv11438852, essv11438820, essv11438924, essv11438864, essv11438814, essv11438812, essv11438993, essv11439001, essv11438972, essv11438910, essv11438875, essv11438950
SamplesNA19394, HG01985, NA18502, HG01485, NA20339, HG02890, NA19141, HG03366, HG03378, HG02481, NA19909, NA19664, NA19466, HG03548, NA18861, NA19399, NA19914, HG02973, HG02702, HG03175, NA20274, HG02433, NA18881, HG01389, NA18877, NA19355, HG03295, NA19443, NA19314, NA20359, HG01924, NA19107, HG03095, NA19446, HG03074, NA19374, HG03082, NA19171, NA19379, HG03086, HG03168, NA19315, HG02810, NA18489, NA19448, NA19307, HG02541, NA19119, HG02840, NA20769, HG03342, HG02854, NA19197, HG03578, NA19457, HG01063, NA19138, NA19904, NA19384, HG02111, HG03079, NA19038, HG03209, NA19383, HG02315, NA18874, HG02573, NA19238, HG03045, HG01369, NA19235, NA19471, HG02471, HG02588, HG03352, NA19036, HG02571, NA20412, NA18520, HG03225, HG02545, HG03058, HG02623, NA19456, NA19025, HG03583, NA18908, HG02882, NA19451, NA19200, HG03343, HG02977, NA19908, NA19247, HG03132, NA18934, HG03088, NA19152, HG02678, NA19327, NA19913, NA19043, NA19982, NA18915, HG02144, HG02953, HG01989, HG02307, HG02014, HG03027, HG02976, HG02537, HG02555, HG03311, HG03563, HG03472, HG03382, HG02817, NA18499, HG03078, NA19113, HG02881, NA19320, HG03024, NA19338, NA19452, HG02585, NA19225, NA18523, NA19318, NA19095, HG02635, HG02586, NA19395, HG02568, HG01956, NA20296, HG03064, HG02255, HG02455, NA19440, NA19309, NA19834, NA19149, NA19147, HG03367, NA19434, HG03539, HG02308, NA19454, HG01915, HG01958, NA20351, NA19380, NA20362, NA19334, HG01205, NA19324, NA19467, HG02580, NA19360, HG03419, HG01342, NA19818, HG03432, HG03039, NA19785, HG03442, HG03157, HG02970, HG01912, NA19223, HG03097, NA19351, NA19468, HG02938, HG01254, HG03063, NA19185, HG03351, HG02239, NA18876, NA19711, NA19213, HG01914, NA19121, HG03445, NA19430, HG02855, NA19316, HG03303, HG03129, NA19429, NA19214, HG03166
Known GenesTMEM165
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600549
Frequency
Sample Size2504
Observed Gain0
Observed Loss195
Observed Complex0
Frequencyn/a


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