A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647231



Internal ID6687286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17658930..17661862hg38UCSC Ensembl
Innerchr22:17659080..17661712hg38UCSC Ensembl
Outerchr22:17658780..17662012hg38UCSC Ensembl
chr22:18141696..18144628hg19UCSC Ensembl
Innerchr22:18141846..18144478hg19UCSC Ensembl
Outerchr22:18141546..18144778hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382933
hg192933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16361048, essv16361084, essv16361236, essv16361090, essv16360949, essv16361003, essv16361008, essv16361240, essv16361224, essv16361211, essv16360957, essv16360964, essv16361149, essv16361225, essv16361220, essv16361033, essv16361237, essv16360961, essv16361157, essv16361091, essv16361143, essv16361115, essv16361060, essv16360988, essv16361029, essv16361063, essv16361041, essv16361011, essv16361191, essv16361195, essv16361073, essv16361058, essv16361160, essv16360993, essv16360950, essv16361245, essv16360959, essv16361025, essv16361083, essv16361132, essv16361165, essv16361067, essv16360971, essv16360953, essv16361111, essv16361209, essv16361219, essv16361176, essv16360945, essv16361103, essv16361071, essv16361194, essv16361027, essv16361017, essv16361180, essv16361134, essv16361198, essv16361034, essv16361093, essv16361248, essv16361049, essv16361068, essv16361019, essv16360951, essv16360992, essv16361158, essv16360970, essv16361126, essv16360996, essv16361096, essv16361177, essv16361127, essv16360962, essv16361232, essv16361089, essv16361215, essv16361069, essv16361005, essv16361210, essv16361120, essv16360973, essv16360985, essv16361144, essv16361189, essv16361182, essv16361085, essv16360979, essv16360948, essv16361212, essv16361200, essv16361169, essv16361076, essv16361183, essv16361062, essv16360994, essv16361175, essv16361188, essv16360982, essv16361141, essv16361064, essv16361124, essv16361051, essv16360963, essv16361199, essv16361050, essv16361117, essv16360986, essv16361162, essv16361047, essv16361216, essv16361172, essv16361206, essv16361135, essv16361113, essv16361101, essv16361109, essv16361193, essv16361001, essv16360947, essv16361105, essv16361018, essv16361044, essv16361057, essv16361045, essv16361026, essv16361031, essv16361243, essv16360942, essv16361004, essv16361040, essv16360954, essv16361151, essv16361061, essv16361021, essv16361147, essv16361167, essv16360981, essv16361226, essv16361012, essv16361053, essv16361201, essv16361137, essv16361136, essv16361155, essv16361038, essv16361016, essv16361092, essv16361108, essv16361065, essv16361153, essv16361229, essv16360989, essv16361146, essv16361128, essv16361066, essv16360976, essv16361055, essv16361079, essv16361087, essv16361015, essv16361179, essv16361148, essv16360978, essv16360998, essv16361246, essv16361187, essv16361150, essv16361009, essv16360966, essv16361156, essv16361140, essv16361077, essv16361043, essv16361181, essv16361185, essv16361114, essv16361107, essv16361094, essv16360967, essv16361014, essv16361221, essv16361228, essv16361163, essv16361142, essv16361218, essv16361235, essv16361178, essv16361231, essv16361002, essv16360980, essv16361032, essv16361227, essv16361110, essv16361102, essv16361217, essv16361152, essv16361230, essv16360944, essv16361013, essv16360984, essv16361159, essv16361196, essv16361030, essv16360972, essv16361072, essv16361039, essv16360956, essv16361116, essv16361233, essv16361205, essv16361075, essv16361022, essv16361139, essv16361036, essv16361133, essv16360969, essv16361170, essv16361161, essv16361122, essv16361131, essv16361104, essv16361164, essv16361099, essv16361035, essv16361242, essv16361244, essv16361006, essv16361070, essv16361000, essv16361081, essv16361112, essv16361020, essv16360995, essv16361054, essv16360946, essv16361145, essv16361086, essv16361173, essv16361241, essv16361208, essv16361125, essv16361028, essv16361239, essv16361121, essv16360999, essv16361082, essv16361197, essv16361222, essv16361119, essv16361080, essv16360958, essv16360952, essv16361098, essv16360991, essv16361190, essv16361247, essv16361007, essv16361078, essv16360997, essv16361097, essv16360960, essv16361046, essv16361037, essv16361074, essv16361202, essv16361203, essv16361118, essv16361130, essv16360974, essv16361192, essv16361204, essv16361052, essv16360943, essv16360968, essv16361154, essv16361171, essv16360983, essv16361166, essv16361223, essv16361123, essv16361056, essv16361042, essv16361100, essv16361138, essv16361129, essv16361213, essv16360975, essv16360965, essv16361088, essv16361095, essv16361024, essv16360977, essv16360955, essv16361174, essv16361186, essv16361106, essv16361184, essv16361238, essv16361214, essv16361168, essv16361234, essv16361010, essv16361059, essv16360990, essv16361023, essv16360987, essv16361207
SamplesHG01610, HG00380, HG02725, HG00309, NA12489, HG00252, HG01926, HG02657, HG03760, HG00182, HG01104, NA19734, HG01530, HG02298, HG00551, HG00129, HG00328, HG00351, HG01083, NA20510, HG00274, HG00186, NA12347, HG00131, HG00155, HG01885, HG00160, NA20888, NA10847, HG01615, HG01492, NA20800, HG01082, HG01488, NA20529, HG01685, HG01174, HG03642, HG03653, HG00326, HG01524, NA20786, HG01200, NA19782, HG01350, HG02105, NA12005, HG01704, HG00190, HG01771, HG02146, HG01762, NA20900, HG02231, HG01188, HG01708, HG00111, HG01204, HG00187, HG03750, NA19648, NA20314, HG03491, HG03967, HG04002, HG04180, HG01134, HG03229, HG02232, HG00331, HG00146, HG01142, HG01525, NA19355, HG03714, HG00319, HG00253, HG03488, NA19780, HG03947, NA20755, NA12044, NA20521, HG01968, HG00188, NA19776, HG00353, HG00269, HG01784, HG01435, NA12414, HG03667, HG01107, HG01765, HG03690, HG02008, NA12763, HG00371, HG01363, HG01384, HG01092, NA20819, NA21088, HG00421, HG01672, HG00240, HG00358, HG00638, HG02233, HG00096, HG01623, NA07357, HG01048, HG01709, HG01572, HG01183, HG01047, NA20807, HG00121, HG01124, HG01620, HG02090, HG03862, NA12273, HG01396, HG00150, HG01556, HG03851, HG01360, NA11831, HG01136, HG04099, NA11894, NA11995, HG00174, HG04063, HG03864, NA19679, NA12830, NA20589, HG00237, HG00343, HG04185, HG00133, HG02737, NA20773, HG03780, NA12751, HG01497, HG02239, NA12006, NA20769, HG01443, HG03869, HG01111, HG01437, NA12716, NA19759, HG02054, HG03922, NA12778, HG00325, HG03753, NA12348, HG00383, HG00255, HG00263, NA20753, NA12275, HG03754, NA21141, NA20864, HG01073, HG00239, HG00265, HG00273, HG01967, HG02558, HG00102, HG01676, NA18564, NA20828, HG01080, HG02147, NA20797, NA20582, NA20766, HG00246, NA19789, HG00236, HG01077, NA20891, HG02026, HG01933, HG01779, NA10851, NA12890, NA20581, HG01063, HG01162, NA19669, HG01326, NA19794, HG00181, HG01405, HG02235, HG01971, HG01334, NA12749, HG03679, HG02238, NA12413, HG01269, NA12812, NA20518, NA20850, NA20867, HG02230, NA12889, NA21087, HG01303, HG00118, HG03815, NA19755, NA19649, HG01412, NA20513, HG01945, NA11830, NA11992, HG04039, HG01619, HG01593, NA12399, NA19655, HG00142, HG01323, HG01275, NA19732, HG01912, NA20543, HG01251, NA20872, NA12045, HG01119, HG03814, NA19171, HG01498, HG01791, HG00275, NA20524, HG03695, HG03976, NA06994, NA20870, HG00143, NA19758, HG01789, HG01932, NA19750, HG00107, HG01474, HG03824, HG00126, HG02512, HG00381, HG03775, HG04107, HG00327, HG01372, NA12827, HG02477, HG00313, NA12043, NA19625, HG01359, HG02793, HG01790, HG01241, HG01675, NA11930, NA07037, NA20809, HG01438, HG00743, HG01302, HG01072, NA20785, NA20866, HG00100, NA20506, HG00127, HG01055, HG01342, NA20906, NA19783, HG00310, HG00384, HG01098, NA06989, NA12340, HG01624, HG03643, HG03969, NA11931, NA20511, NA20808
Known GenesBCL2L13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647231
Frequency
Sample Size2504
Observed Gain0
Observed Loss307
Observed Complex0
Frequencyn/a


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