Variant Details

Variant: esv3585246

Internal ID

6972770

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:12836585..12869005	hg38	UCSC Ensembl
Inner	chr1:12837085..12868505	hg38	UCSC Ensembl
Outer	chr1:12835587..12870005	hg38	UCSC Ensembl
	chr1:12896438..12928826	hg19	UCSC Ensembl
Inner	chr1:12896938..12928326	hg19	UCSC Ensembl
Outer	chr1:12895438..12929826	hg19	UCSC Ensembl

Cytoband

1p36.21

Allele length

Assembly	Allele length
hg38	32421
hg19	32389

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv9857915, essv9857865, essv9857976, essv9857813, essv9857912, essv9857832, essv9857960, essv9857855, essv9857890, essv9857966, essv9857816, essv9857796, essv9857921, essv9857869, essv9857800, essv9857856, essv9857822, essv9857845, essv9857810, essv9857981, essv9857923, essv9857799, essv9857940, essv9857826, essv9857870, essv9857852, essv9857908, essv9857863, essv9857861, essv9857806, essv9857909, essv9857867, essv9857840, essv9857938, essv9857880, essv9857993, essv9857989, essv9857970, essv9857946, essv9857891, essv9857889, essv9857948, essv9857928, essv9857844, essv9857839, essv9857792, essv9857864, essv9857842, essv9857892, essv9857992, essv9857933, essv9857903, essv9857854, essv9857853, essv9857824, essv9857805, essv9857835, essv9857973, essv9857809, essv9857914, essv9857872, essv9857789, essv9857797, essv9857868, essv9857843, essv9857899, essv9857881, essv9857905, essv9857926, essv9857877, essv9857985, essv9857975, essv9857882, essv9857972, essv9857904, essv9857906, essv9857830, essv9857963, essv9857884, essv9857858, essv9857965, essv9857802, essv9857878, essv9857949, essv9857846, essv9857848, essv9857920, essv9857955, essv9857898, essv9857987, essv9857959, essv9857821, essv9857900, essv9857851, essv9857952, essv9857862, essv9857823, essv9857995, essv9857885, essv9857962, essv9857941, essv9857917, essv9857850, essv9857977, essv9857794, essv9857847, essv9857902, essv9857913, essv9857803, essv9857897, essv9857807, essv9857944, essv9857837, essv9857998, essv9857859, essv9857958, essv9857930, essv9857819, essv9857860, essv9857883, essv9857996, essv9857919, essv9857988, essv9857893, essv9857825, essv9857990, essv9857804, essv9857945, essv9857968, essv9857986, essv9857971, essv9857814, essv9857950, essv9857894, essv9857888, essv9857896, essv9857997, essv9857786, essv9857974, essv9857801, essv9857911, essv9857994, essv9857788, essv9857991, essv9857815, essv9857925, essv9857841, essv9857947, essv9857887, essv9857790, essv9857879, essv9857927, essv9857980, essv9857984, essv9857836, essv9857875, essv9857931, essv9857808, essv9857935, essv9857871, essv9857791, essv9857961, essv9857866, essv9857831, essv9857811, essv9857910, essv9857873, essv9857795, essv9857916, essv9857978, essv9857812, essv9857817, essv9857918, essv9857937, essv9857828, essv9857979, essv9857967, essv9857936, essv9857827, essv9857895, essv9857954, essv9857874, essv9857901, essv9857820, essv9857929, essv9857983, essv9857886, essv9857942, essv9857932, essv9857818, essv9857939, essv9857787, essv9857953, essv9857907, essv9857793, essv9857876, essv9857934, essv9857833, essv9857951, essv9857922, essv9857964, essv9857924, essv9857857, essv9857982, essv9857798, essv9857969, essv9857956, essv9857829, essv9857834, essv9857957, essv9857943, essv9857849, essv9857838

Samples

NA12383, HG03812, NA12717, HG01412, HG00442, NA19700, HG00304, HG02272, HG01462, HG02002, NA12286, HG01624, HG01961, NA19066, NA21127, NA10851, HG02298, HG00358, HG02026, HG01537, HG00100, HG01326, HG01280, HG02150, NA19734, HG03241, HG00257, HG00244, HG01305, HG03298, HG03616, HG02277, HG01802, HG01944, HG01971, HG02271, HG01947, NA19443, NA12400, HG02285, HG03950, NA12413, HG01924, NA20814, NA19746, HG01506, HG01350, HG03086, HG01953, HG01682, HG03135, HG03757, HG03722, NA20589, NA19762, NA20890, HG01177, NA20320, HG01997, HG01676, HG04206, NA18567, HG01968, HG02266, HG01599, HG03342, HG02854, HG02301, HG02299, NA19023, HG01354, NA19771, HG03040, HG01372, HG00185, NA19038, NA18611, HG01893, HG02252, HG02490, HG01628, NA12044, NA19024, HG03888, HG01369, HG01308, HG03693, HG01892, NA19087, HG01950, HG01932, HG01048, HG03267, NA21114, HG02715, HG01967, NA19789, HG03784, HG01312, HG01942, HG01565, HG01124, NA18614, HG01183, HG03902, NA18613, NA12489, NA19437, HG00176, HG03007, HG02345, HG01344, HG01162, NA18991, HG01938, HG01979, NA20314, NA19663, HG02731, HG03711, HG00584, HG01989, HG01845, HG01142, HG01498, HG04019, NA21118, HG02968, HG01323, HG04177, NA18981, HG04235, HG03823, HG01102, HG03730, NA20859, HG03951, HG00479, NA19031, HG02259, HG01921, HG01101, HG00140, NA19740, HG02666, NA18963, HG02286, HG03755, HG01936, HG01988, HG01572, HG00126, NA18593, NA12546, HG04093, HG00445, HG01990, NA19017, HG03238, NA19652, HG03028, HG02282, HG04006, NA18559, HG01980, NA21144, NA19735, HG02501, NA19747, HG01131, HG01878, NA19732, HG02304, NA19331, HG00278, NA12873, HG01939, NA20351, NA21123, NA19334, HG01974, NA19428, HG01933, HG01113, NA19786, HG02464, NA19741, NA12874, HG01342, NA20887, NA19475, NA06994, HG02147, NA21102, HG01055, NA19726, HG03538, NA18983, HG01251, NA19661, NA19755, HG03856, HG01111, HG01863, HG04161, NA20585, HG03815, HG02406, HG01927, HG01923, HG01578, NA19431, NA18965

Known Genes

HNRNPCL1, LOC649330, PRAMEF2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3585246

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	213
Observed Complex	0
Frequency	n/a