Variant Details

Variant: esv3637548

Internal ID

6677652

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:173679..177491	hg38	UCSC Ensembl
Inner	chr16:173829..177341	hg38	UCSC Ensembl
Outer	chr16:173529..177641	hg38	UCSC Ensembl
	chr16:223678..227490	hg19	UCSC Ensembl
Inner	chr16:223828..227340	hg19	UCSC Ensembl
Outer	chr16:223528..227640	hg19	UCSC Ensembl

Cytoband

16p13.3

Allele length

Assembly	Allele length
hg38	3813
hg19	3813

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15355013, essv15354925, essv15354987, essv15354996, essv15355068, essv15355081, essv15354933, essv15354898, essv15354971, essv15354934, essv15354849, essv15354844, essv15354912, essv15354952, essv15355041, essv15354867, essv15355014, essv15355010, essv15354995, essv15355032, essv15354881, essv15354913, essv15354859, essv15354875, essv15354911, essv15354848, essv15354899, essv15355075, essv15354967, essv15355047, essv15355050, essv15354954, essv15354947, essv15354914, essv15355036, essv15355062, essv15354891, essv15354910, essv15355055, essv15355060, essv15354903, essv15355044, essv15355077, essv15354916, essv15355056, essv15354882, essv15354847, essv15354861, essv15354857, essv15354923, essv15354998, essv15354874, essv15354917, essv15355001, essv15355045, essv15354869, essv15354879, essv15355084, essv15354878, essv15354864, essv15354918, essv15355027, essv15354890, essv15355088, essv15354956, essv15355011, essv15354945, essv15354846, essv15355028, essv15354924, essv15354963, essv15354942, essv15354926, essv15355019, essv15354856, essv15354931, essv15354968, essv15354850, essv15354962, essv15354871, essv15354961, essv15355021, essv15355046, essv15354977, essv15354999, essv15355025, essv15354966, essv15354988, essv15354944, essv15355070, essv15354872, essv15354852, essv15354883, essv15354873, essv15354990, essv15354921, essv15354863, essv15354950, essv15354953, essv15355058, essv15354946, essv15355049, essv15354937, essv15354889, essv15354927, essv15354964, essv15354983, essv15355080, essv15354972, essv15354932, essv15355009, essv15355035, essv15354976, essv15354935, essv15354992, essv15354974, essv15355018, essv15355078, essv15354989, essv15355000, essv15355040, essv15354885, essv15354951, essv15355003, essv15354894, essv15355076, essv15354904, essv15354960, essv15355023, essv15355030, essv15355072, essv15354929, essv15354842, essv15355034, essv15355042, essv15355069, essv15354886, essv15355026, essv15354887, essv15354982, essv15354991, essv15354843, essv15354948, essv15355054, essv15354892, essv15354908, essv15354975, essv15354868, essv15354994, essv15354900, essv15354949, essv15354959, essv15355039, essv15354840, essv15354877, essv15355012, essv15355037, essv15354902, essv15355002, essv15355020, essv15354920, essv15354939, essv15355065, essv15354845, essv15354905, essv15354936, essv15354984, essv15354928, essv15355064, essv15355005, essv15354865, essv15354993, essv15354919, essv15355082, essv15354941, essv15354957, essv15354997, essv15354888, essv15354938, essv15354839, essv15355043, essv15355048, essv15354884, essv15354980, essv15354893, essv15354985, essv15355015, essv15355033, essv15355079, essv15354841, essv15355051, essv15354978, essv15354866, essv15354901, essv15355085, essv15354854, essv15354958, essv15354979, essv15354986, essv15354930, essv15354906, essv15355008, essv15355086, essv15354860, essv15354876, essv15355029, essv15354907, essv15355052, essv15355061, essv15355006, essv15354897, essv15354940, essv15354922, essv15354955, essv15355071, essv15355004, essv15354853, essv15354858, essv15355067, essv15354880, essv15354981, essv15355073, essv15355087, essv15355063, essv15355031, essv15355016, essv15355022, essv15355053, essv15355057, essv15354915, essv15354965, essv15354870, essv15355038, essv15354969, essv15354895, essv15355089, essv15354970, essv15354909, essv15354855, essv15354973, essv15354862, essv15354896, essv15354943, essv15355066, essv15355083, essv15355007, essv15355017, essv15355059, essv15354851, essv15355074, essv15355024

Samples

HG02691, HG03136, HG03163, NA20281, NA19137, NA19146, HG02808, NA19207, HG02107, NA19312, NA19152, HG03120, NA18861, NA19436, HG03354, HG02108, HG03567, NA19214, HG01241, HG03279, NA18520, HG02330, HG03351, NA18871, NA20866, NA19819, HG00551, NA18933, HG00978, HG01988, NA18523, HG03342, NA19114, HG00369, NA19209, HG00731, HG01444, HG02727, NA19093, HG03874, NA19310, HG02549, HG03066, HG03129, HG01277, HG01885, NA19149, NA20346, HG01794, HG02318, HG03247, NA18511, NA19430, HG01403, HG03452, HG01325, HG02974, HG02952, NA19451, HG02946, HG03124, HG01524, HG01883, HG02010, HG02944, NA18865, HG02508, HG03111, NA19184, HG01286, HG02977, NA19461, HG03458, NA19379, HG02471, HG02497, HG03099, HG03680, HG01958, HG03103, NA19320, HG02274, HG03548, NA19257, HG03485, HG03380, NA18488, HG03199, HG03796, HG00737, HG03268, HG00699, HG03394, HG01608, NA20853, NA19037, HG03159, NA19438, NA18868, NA20340, HG01812, HG03376, NA19117, HG02455, HG01924, HG02420, NA19463, NA19914, NA20896, NA18912, NA19383, HG01363, HG03127, NA19239, NA19984, HG03193, HG03575, HG04144, NA20356, NA21088, HG02462, NA19309, NA19917, NA19443, HG02554, NA19471, NA19900, NA19107, NA20908, HG00728, HG02032, HG03241, HG03727, NA19351, NA19908, HG02410, HG03583, HG02143, HG02220, NA19256, HG02028, NA19835, HG03887, NA18916, HG02380, NA19036, NA19457, HG02756, NA19190, HG02941, HG02283, NA19360, HG02442, HG03190, NA19172, HG02537, HG02768, HG03209, HG03922, NA19375, NA19393, HG01989, HG02541, NA19024, NA19206, HG03473, NA18923, NA18486, NA19102, NA18522, NA21107, HG03511, HG04070, NA21112, HG02804, NA18510, HG03472, HG03849, HG03168, HG03514, HG02343, HG02938, NA18504, HG03366, HG03518, NA19347, HG02771, HG02780, HG03778, NA19332, HG03073, HG01805, NA19318, NA19711, HG00729, HG02374, HG03132, NA19235, HG02947, HG03363, NA19038, NA19138, NA19376, HG03303, NA18909, HG01405, HG02923, NA19035, HG02182, NA18867, NA19394, HG03694, HG01799, NA19116, NA19431, NA20289, HG03078, HG03198, HG01390, HG03105, HG03999, NA18879, HG03123, NA19452, NA20317, HG01485, HG02489, HG03081, HG02589, NA19327, NA18917, NA19160, NA19198, HG03270, HG00690, HG03372, HG01102, HG02315, NA18908, NA19473, HG01110, HG03517, HG02013, HG01807, HG02332, HG01890, NA19200, HG02095, HG03095, HG03091, NA19439

Known Genes

HBA1, HBA2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3637548

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	251
Observed Complex	0
Frequency	n/a