Variant Details

Variant: esv3647231

Internal ID

6687286

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:17658930..17661862	hg38	UCSC Ensembl
Inner	chr22:17659080..17661712	hg38	UCSC Ensembl
Outer	chr22:17658780..17662012	hg38	UCSC Ensembl
	chr22:18141696..18144628	hg19	UCSC Ensembl
Inner	chr22:18141846..18144478	hg19	UCSC Ensembl
Outer	chr22:18141546..18144778	hg19	UCSC Ensembl

Cytoband

22q11.21

Allele length

Assembly	Allele length
hg38	2933
hg19	2933

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16361141, essv16361224, essv16361242, essv16361022, essv16360965, essv16361016, essv16361058, essv16361088, essv16361205, essv16360969, essv16361132, essv16361184, essv16361059, essv16361196, essv16361146, essv16361216, essv16361126, essv16361108, essv16361168, essv16361215, essv16361161, essv16361110, essv16361083, essv16361221, essv16361156, essv16361120, essv16360971, essv16361098, essv16360979, essv16360962, essv16361062, essv16361238, essv16361235, essv16361017, essv16361227, essv16361029, essv16361206, essv16361173, essv16361213, essv16360968, essv16361041, essv16361008, essv16361129, essv16361020, essv16361143, essv16361075, essv16361104, essv16360950, essv16361234, essv16361087, essv16360946, essv16360972, essv16361180, essv16361053, essv16360977, essv16360966, essv16361019, essv16361228, essv16361188, essv16361034, essv16361023, essv16361155, essv16361137, essv16361109, essv16361202, essv16360982, essv16360954, essv16361014, essv16360949, essv16361124, essv16361106, essv16361055, essv16361066, essv16361080, essv16361001, essv16361142, essv16361204, essv16360992, essv16361112, essv16361150, essv16361194, essv16361217, essv16361223, essv16361164, essv16361135, essv16361065, essv16361246, essv16361049, essv16360961, essv16361149, essv16360984, essv16361047, essv16360963, essv16361067, essv16361175, essv16361078, essv16361247, essv16361138, essv16360996, essv16361201, essv16361040, essv16361220, essv16361082, essv16361060, essv16361189, essv16361199, essv16361136, essv16361191, essv16360983, essv16361159, essv16361187, essv16361085, essv16361128, essv16361006, essv16361193, essv16361056, essv16361038, essv16361203, essv16360997, essv16361033, essv16361079, essv16361096, essv16360973, essv16361094, essv16361012, essv16361151, essv16361036, essv16361122, essv16361013, essv16361005, essv16360945, essv16361222, essv16361026, essv16360978, essv16361095, essv16360985, essv16361048, essv16360990, essv16361195, essv16361116, essv16361230, essv16361046, essv16361027, essv16361123, essv16361111, essv16361099, essv16361057, essv16361009, essv16361183, essv16360959, essv16361243, essv16361239, essv16361208, essv16360995, essv16361125, essv16361179, essv16361044, essv16361113, essv16361068, essv16361102, essv16361140, essv16361218, essv16361100, essv16361192, essv16361237, essv16361074, essv16361236, essv16361248, essv16361002, essv16360989, essv16361174, essv16361031, essv16360981, essv16361245, essv16361021, essv16361051, essv16361077, essv16361144, essv16360976, essv16361166, essv16361153, essv16361024, essv16361133, essv16361101, essv16360999, essv16361127, essv16361154, essv16361015, essv16361210, essv16361232, essv16361030, essv16361240, essv16361241, essv16361050, essv16361170, essv16361045, essv16361115, essv16361028, essv16361182, essv16360988, essv16360944, essv16361114, essv16361091, essv16361190, essv16361152, essv16361148, essv16361171, essv16361007, essv16361121, essv16361163, essv16361226, essv16361037, essv16361118, essv16361018, essv16360980, essv16361139, essv16361039, essv16361042, essv16360998, essv16361090, essv16360993, essv16361089, essv16360970, essv16361071, essv16361069, essv16361200, essv16361131, essv16361244, essv16361212, essv16360958, essv16361167, essv16361003, essv16361004, essv16360943, essv16360986, essv16361162, essv16360955, essv16361130, essv16361225, essv16361214, essv16361197, essv16360952, essv16360953, essv16361011, essv16361064, essv16361070, essv16361092, essv16360991, essv16360947, essv16360948, essv16360956, essv16361103, essv16361073, essv16361207, essv16361231, essv16361209, essv16361198, essv16361081, essv16361063, essv16361043, essv16360975, essv16361000, essv16361093, essv16361160, essv16361025, essv16361229, essv16361052, essv16361158, essv16360987, essv16361134, essv16361169, essv16361061, essv16361097, essv16361185, essv16360942, essv16360957, essv16361211, essv16361145, essv16361157, essv16360964, essv16361035, essv16361084, essv16361178, essv16361054, essv16361165, essv16361072, essv16361107, essv16360974, essv16361117, essv16361147, essv16360951, essv16360994, essv16361186, essv16361181, essv16361010, essv16361105, essv16360967, essv16361076, essv16361177, essv16361176, essv16361032, essv16361233, essv16361172, essv16361119, essv16360960, essv16361219, essv16361086

Samples

HG01412, NA20529, HG00143, NA20891, HG00142, HG00102, NA20766, HG01624, HG01443, HG01610, HG00384, NA10851, HG01885, NA12273, HG00358, NA12414, HG02026, HG03753, HG01326, NA11931, HG02231, HG00181, NA12751, NA19355, NA12340, HG03229, NA20864, HG01704, HG03679, NA12399, NA19171, HG01350, HG03754, NA20589, HG02105, HG01676, HG02146, HG01968, HG00129, HG01492, HG02054, HG01083, HG01063, HG01372, NA11930, NA12275, HG01080, NA20518, HG00325, NA12044, HG03947, HG01525, HG03814, HG00160, HG00118, HG01048, HG01771, HG01709, HG01275, HG00326, HG02477, HG01967, HG00253, NA19789, NA20755, NA20753, HG00743, HG01124, NA12489, NA20800, HG01435, HG00380, HG03714, HG02793, HG01200, HG04039, HG01789, NA20521, NA20314, HG03491, HG01142, HG01498, HG00263, HG03775, HG00275, HG01077, HG01323, HG01675, HG00551, HG00239, HG03967, HG01047, NA20867, NA20866, HG01762, NA20581, HG00331, HG02657, NA19750, NA06989, HG03643, HG01593, HG01497, HG04063, HG01334, HG03969, HG01474, HG00146, NA12778, HG00246, HG01572, HG00240, HG00126, NA19625, HG01107, HG03653, NA12043, NA20872, HG00155, HG00383, HG00265, NA18564, HG00353, HG03695, HG01685, NA20870, HG01396, HG01174, HG02232, HG03869, HG00237, NA19679, HG04099, HG01620, NA19783, NA12763, HG01342, NA12347, HG02558, NA20888, NA20906, NA06994, HG01765, HG03642, HG00381, HG02147, HG01912, HG02235, HG01302, NA20510, HG00310, NA20786, HG01269, NA19780, HG00274, HG01111, NA12890, NA12006, HG03815, HG01437, HG00255, HG03864, HG03690, HG00096, NA19648, NA11830, HG01098, HG00121, NA20543, NA19794, HG01303, HG01438, NA11995, HG02298, HG01359, HG00351, HG00187, HG00100, HG01188, NA19734, NA12045, HG04002, HG01971, HG03667, NA20808, HG00150, NA19669, NA07357, NA12413, HG00327, HG00127, NA12812, HG01779, NA20850, HG01488, HG03976, NA20900, NA20769, NA12348, HG01945, NA19649, NA11992, NA20513, NA19782, HG03851, HG01134, NA12005, HG02512, NA20819, HG00236, HG01072, HG01405, NA12889, HG00309, HG00182, HG01932, HG04185, HG03750, HG03862, HG01524, NA11831, NA10847, HG00313, HG00133, HG02737, HG01784, HG01183, HG01136, HG00188, HG03780, HG01360, HG02233, NA20524, HG01384, HG00328, HG01104, HG02090, HG03760, HG01790, HG00190, NA20809, HG01162, HG04107, NA20506, HG01119, HG04180, NA19776, HG01092, HG01615, HG01073, HG00273, HG01619, HG03824, NA19655, NA21141, NA11894, HG02008, HG01241, HG01791, NA12827, HG02725, HG01708, NA20828, HG01204, HG01530, HG01363, NA21087, NA20773, NA12716, NA19732, HG00638, NA20785, HG01623, HG03488, HG01933, HG00319, NA20797, NA07037, HG00269, HG00107, NA19759, HG00111, HG00371, NA21088, HG02238, NA20582, HG02230, HG01556, HG00421, NA12749, HG01055, HG00174, NA12830, HG00186, HG02239, NA20807, HG00131, HG00343, HG01251, HG00252, HG03922, NA19755, HG01082, NA19758, HG01672, HG01926, NA20511

Known Genes

BCL2L13

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647231

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	307
Observed Complex	0
Frequency	n/a