Variant Details

Variant: esv3640327

Internal ID

7027102

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr17:29455111..29457305	hg38	UCSC Ensembl
Inner	chr17:29455139..29457278	hg38	UCSC Ensembl
Outer	chr17:29455084..29457333	hg38	UCSC Ensembl
	chr17:27782129..27784323	hg19	UCSC Ensembl
Inner	chr17:27782157..27784296	hg19	UCSC Ensembl
Outer	chr17:27782102..27784351	hg19	UCSC Ensembl

Cytoband

17q11.2

Allele length

Assembly	Allele length
hg38	2195
hg19	2195

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15657078, essv15657109, essv15657183, essv15657180, essv15657179, essv15657067, essv15657045, essv15657174, essv15657156, essv15657022, essv15657123, essv15657091, essv15657112, essv15657044, essv15657129, essv15657143, essv15657107, essv15657088, essv15657162, essv15657140, essv15657124, essv15657126, essv15657043, essv15657069, essv15657060, essv15657178, essv15657120, essv15657068, essv15657047, essv15657024, essv15657172, essv15657080, essv15657095, essv15657185, essv15657168, essv15657086, essv15657167, essv15657161, essv15657151, essv15657084, essv15657136, essv15657118, essv15657071, essv15657154, essv15657127, essv15657083, essv15657081, essv15657062, essv15657100, essv15657036, essv15657137, essv15657096, essv15657148, essv15657181, essv15657033, essv15657106, essv15657197, essv15657184, essv15657132, essv15657052, essv15657194, essv15657092, essv15657065, essv15657049, essv15657163, essv15657142, essv15657094, essv15657035, essv15657173, essv15657152, essv15657046, essv15657157, essv15657186, essv15657029, essv15657030, essv15657089, essv15657135, essv15657189, essv15657193, essv15657187, essv15657104, essv15657074, essv15657034, essv15657028, essv15657134, essv15657072, essv15657170, essv15657108, essv15657026, essv15657147, essv15657057, essv15657020, essv15657166, essv15657040, essv15657119, essv15657150, essv15657158, essv15657177, essv15657087, essv15657098, essv15657075, essv15657058, essv15657039, essv15657195, essv15657164, essv15657110, essv15657200, essv15657169, essv15657023, essv15657025, essv15657188, essv15657101, essv15657085, essv15657054, essv15657051, essv15657155, essv15657144, essv15657042, essv15657146, essv15657139, essv15657122, essv15657130, essv15657105, essv15657056, essv15657115, essv15657032, essv15657019, essv15657041, essv15657116, essv15657145, essv15657171, essv15657077, essv15657093, essv15657090, essv15657021, essv15657149, essv15657027, essv15657048, essv15657192, essv15657037, essv15657182, essv15657113, essv15657070, essv15657103, essv15657050, essv15657079, essv15657099, essv15657199, essv15657055, essv15657063, essv15657133, essv15657111, essv15657191, essv15657076, essv15657097, essv15657196, essv15657159, essv15657082, essv15657073, essv15657061, essv15657066, essv15657160, essv15657125, essv15657175, essv15657102, essv15657031, essv15657190, essv15657128, essv15657064, essv15657153, essv15657141, essv15657059, essv15657121, essv15657165, essv15657131, essv15657117, essv15657198, essv15657114, essv15657176, essv15657138, essv15657053, essv15657038

Samples

HG02614, NA19701, HG03559, NA19222, HG02944, NA19397, HG02481, HG03548, HG03052, HG03163, NA19332, HG03175, HG03111, HG03517, NA18881, NA20813, NA18917, NA20321, NA19092, NA18486, HG02804, HG02323, HG03521, HG02476, NA20294, HG03190, NA20332, NA19377, HG03515, HG02536, NA19190, HG03372, HG01051, NA19314, NA18510, HG03095, HG03572, NA19379, HG03086, NA19319, NA19201, NA19315, NA18489, HG03499, NA20320, NA19307, HG03091, HG02541, HG02840, HG02595, HG02922, NA19038, HG03209, HG02562, NA19383, HG03189, HG02315, NA19238, NA19207, HG03195, NA19036, NA19901, HG02545, NA18864, HG03073, NA19209, NA19456, HG02715, HG02477, HG03270, HG02879, HG02479, HG03343, HG02977, HG03160, HG03061, HG03511, NA19152, NA18933, HG03291, NA19391, NA19913, NA19455, HG02108, HG02450, HG02887, HG01989, HG03575, NA18910, HG02968, HG01880, HG02976, HG02878, HG02537, HG03124, HG03563, HG03472, NA19461, HG02429, HG01512, HG01414, NA19118, NA18879, NA19449, HG03136, HG02577, HG03388, HG01241, NA18912, HG02309, NA19752, NA18853, NA19338, HG01890, NA19225, NA19318, NA18858, HG02568, HG01956, HG02675, NA19436, HG02813, NA19017, NA19375, NA19308, HG02455, HG01444, HG02807, HG03240, NA19321, NA19108, HG03461, NA19149, HG03367, NA19712, NA19434, HG02010, NA19454, NA19435, HG01958, NA19144, NA18865, HG02982, HG03433, HG02941, HG02274, NA19428, NA19310, HG01933, HG01108, NA20357, HG03112, HG02974, HG03157, NA19223, HG03097, HG03049, HG03279, NA19713, HG02107, HG03351, HG02768, HG02676, HG02679, NA19213, HG03401, HG02052, HG02051, NA19121, NA19030, HG03445, HG02947, NA19430, NA19316, NA19312, NA18511, HG01886, HG03129, HG02343, NA19346, NA19153, HG03196

Known Genes

TAOK1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3640327

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	182
Observed Complex	0
Frequency	n/a