Variant Details

Variant: esv3586656

Internal ID

6626966

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:83922647..83923263	hg38	UCSC Ensembl
Inner	chr1:83922647..83923263	hg38	UCSC Ensembl
Outer	chr1:83922235..83923570	hg38	UCSC Ensembl
	chr1:84388330..84388946	hg19	UCSC Ensembl
Inner	chr1:84388330..84388946	hg19	UCSC Ensembl
Outer	chr1:84387918..84389253	hg19	UCSC Ensembl

Cytoband

1p31.1

Allele length

Assembly	Allele length
hg38	617
hg19	617

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv9996939, essv9996903, essv9996951, essv9996874, essv9996994, essv9996929, essv9996991, essv9996918, essv9996840, essv9996960, essv9996872, essv9996864, essv9996940, essv9996889, essv9996983, essv9996973, essv9996954, essv9996885, essv9996870, essv9996972, essv9996970, essv9996968, essv9996896, essv9996878, essv9996906, essv9996956, essv9996915, essv9996952, essv9996945, essv9996937, essv9996901, essv9996967, essv9996924, essv9996979, essv9996871, essv9996867, essv9996852, essv9996857, essv9996953, essv9996873, essv9996846, essv9996959, essv9996963, essv9996854, essv9996946, essv9996897, essv9996902, essv9996933, essv9996969, essv9996911, essv9996848, essv9996895, essv9996927, essv9996860, essv9996859, essv9996934, essv9996869, essv9996941, essv9996883, essv9996988, essv9996987, essv9996862, essv9996837, essv9996986, essv9996950, essv9996892, essv9996887, essv9996888, essv9996886, essv9996910, essv9996876, essv9996891, essv9996839, essv9996865, essv9996900, essv9996932, essv9996917, essv9996928, essv9996978, essv9996856, essv9996841, essv9996984, essv9996898, essv9996995, essv9996935, essv9996877, essv9996842, essv9996976, essv9996881, essv9996923, essv9996909, essv9996981, essv9996913, essv9996961, essv9996925, essv9996907, essv9996985, essv9996844, essv9996931, essv9996957, essv9996912, essv9996993, essv9996992, essv9996936, essv9996930, essv9996949, essv9996958, essv9996853, essv9996943, essv9996861, essv9996974, essv9996919, essv9996894, essv9996858, essv9996908, essv9996966, essv9996893, essv9996875, essv9996965, essv9996947, essv9996882, essv9996948, essv9996884, essv9996944, essv9996850, essv9996879, essv9996926, essv9996942, essv9996868, essv9996905, essv9996863, essv9996977, essv9996890, essv9996855, essv9996851, essv9996938, essv9996880, essv9996990, essv9996964, essv9996921, essv9996847, essv9996916, essv9996989, essv9996975, essv9996899, essv9996955, essv9996845, essv9996922, essv9996866, essv9996904, essv9996849, essv9996843, essv9996982, essv9996962, essv9996980, essv9996920, essv9996914, essv9996838, essv9996971

Samples

NA19394, NA18502, HG03366, NA11830, HG02944, HG01462, HG03228, HG01610, HG00384, NA19204, NA18508, NA19914, NA19332, NA12414, NA20514, HG02318, HG03300, HG01066, HG02836, NA18917, NA19092, NA18486, HG02870, HG02323, HG03298, HG02476, NA20298, HG01456, NA19684, HG03667, NA20346, HG02384, HG03577, HG02888, NA18870, NA20356, NA20771, NA07357, NA12813, HG01350, NA19201, HG03757, HG02140, NA19678, NA20586, HG02541, HG02756, HG02620, HG02301, NA11918, NA07347, NA19023, NA20540, NA19771, HG01510, HG03040, HG01393, HG00311, HG02981, NA20541, HG02505, NA20759, HG02493, HG00335, HG02461, HG03045, NA19207, HG03696, NA19471, HG02588, NA18520, HG03225, NA19239, HG01709, HG03114, NA18867, NA21122, NA20818, HG00349, HG00137, HG02442, HG02977, NA20535, NA19210, NA19437, HG03547, NA20760, HG01882, NA19455, HG02144, HG01989, NA12718, NA18871, HG03159, HG02968, HG02470, HG01948, HG01092, HG00273, NA19461, HG03136, HG02649, HG01241, NA19113, NA19752, NA19320, NA19338, NA19257, HG01474, NA19452, HG01890, HG02286, NA19095, HG01990, HG01204, HG02484, NA19436, HG01257, HG03064, HG02813, NA19017, NA19440, HG00383, HG02557, HG01954, HG03437, NA19019, HG02220, HG01685, NA19435, HG00638, HG02314, NA20790, HG03433, HG02179, NA19467, HG02317, NA19475, NA18501, HG01606, HG03066, HG02230, HG03313, HG02107, NA20289, HG02768, HG02013, HG00280, NA19096, HG00105, HG03445, HG02947, NA18488, HG03376, HG03198, HG03129, HG03439, NA18562, HG02760

Known Genes

TTLL7

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3586656

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	159
Observed Complex	0
Frequency	n/a