Variant Details

Variant: esv3616522

Internal ID

6656718

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr8:18618177..18618644	hg38	UCSC Ensembl
Inner	chr8:18618178..18618644	hg38	UCSC Ensembl
Outer	chr8:18618177..18618645	hg38	UCSC Ensembl
	chr8:18475687..18476154	hg19	UCSC Ensembl
Inner	chr8:18475688..18476154	hg19	UCSC Ensembl
Outer	chr8:18475687..18476155	hg19	UCSC Ensembl

Cytoband

8p22

Allele length

Assembly	Allele length
hg38	468
hg19	468

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv13129999, essv13129988, essv13130077, essv13130043, essv13129970, essv13130018, essv13129924, essv13129927, essv13130024, essv13130074, essv13130027, essv13130015, essv13130093, essv13129964, essv13129936, essv13130017, essv13130010, essv13129943, essv13129983, essv13129932, essv13130092, essv13129961, essv13129925, essv13130030, essv13130071, essv13129947, essv13130091, essv13129976, essv13129992, essv13129993, essv13129980, essv13129968, essv13129949, essv13129982, essv13129941, essv13130083, essv13129990, essv13130080, essv13130057, essv13129926, essv13130037, essv13129996, essv13130022, essv13129963, essv13129937, essv13130079, essv13129955, essv13130019, essv13130063, essv13130059, essv13130056, essv13130062, essv13130034, essv13130086, essv13130087, essv13129942, essv13129953, essv13129979, essv13130069, essv13130058, essv13130060, essv13129951, essv13130073, essv13130098, essv13129981, essv13130045, essv13130094, essv13129952, essv13129978, essv13130039, essv13130072, essv13130097, essv13130099, essv13130004, essv13129965, essv13130061, essv13130003, essv13129967, essv13129998, essv13129935, essv13129939, essv13129972, essv13130005, essv13130096, essv13130078, essv13130042, essv13130085, essv13129959, essv13130006, essv13130054, essv13129987, essv13130031, essv13130007, essv13129995, essv13129940, essv13130000, essv13129975, essv13130046, essv13129977, essv13130020, essv13130012, essv13129971, essv13130011, essv13130029, essv13130008, essv13130001, essv13129958, essv13129931, essv13129989, essv13130095, essv13129945, essv13130013, essv13130081, essv13130088, essv13130082, essv13130021, essv13129954, essv13129994, essv13130035, essv13129984, essv13129997, essv13130041, essv13130025, essv13130033, essv13129950, essv13130009, essv13130067, essv13130090, essv13130070, essv13130028, essv13130040, essv13130066, essv13130048, essv13130026, essv13129956, essv13129986, essv13129933, essv13130053, essv13129985, essv13130002, essv13130076, essv13130038, essv13130023, essv13130064, essv13130049, essv13130051, essv13130036, essv13129928, essv13130055, essv13129934, essv13129991, essv13130084, essv13129973, essv13129962, essv13130052, essv13129974, essv13129957, essv13130065, essv13129944, essv13129969, essv13130075, essv13130050, essv13129960, essv13130044, essv13130014, essv13130016, essv13129929, essv13129938, essv13130089, essv13130068, essv13130032, essv13129966, essv13130047, essv13129948, essv13129930, essv13129946

Samples

HG00554, HG03698, NA20908, HG00553, HG00362, NA11832, HG03886, NA21091, HG03864, NA12383, HG04210, HG01986, HG01060, HG01746, HG00235, NA20761, HG02658, HG03800, HG01173, NA20529, HG02652, NA21111, HG00142, NA20766, HG01443, HG00384, NA21127, HG03237, HG04158, NA11933, NA21092, HG01970, NA20813, HG01305, HG03668, NA20805, HG03018, NA21137, HG02271, NA19669, HG01632, NA12400, NA12399, HG03950, HG03680, HG03009, HG03782, NA20814, HG03235, HG03705, HG02690, HG03754, HG01779, HG01702, NA20890, HG01676, HG01277, HG01766, HG03873, HG00238, NA12348, HG03663, HG01761, HG02655, HG03762, NA20759, HG03826, NA21109, HG00262, HG03746, HG01308, HG03696, HG01176, NA21107, HG03693, HG00309, HG00160, HG00159, HG01709, HG00178, NA20757, NA20533, NA21105, HG04075, NA21122, HG00743, HG02479, HG01164, HG00260, NA10847, HG03709, HG03697, HG00380, HG00145, HG04146, HG03644, HG00190, NA20760, HG03928, HG00132, HG02731, NA20506, NA20876, HG03021, HG01092, HG01615, NA11919, HG03871, NA19774, HG02577, HG02494, NA20581, NA21112, HG02604, HG01707, HG04173, HG03740, HG03625, HG02086, HG01593, HG02783, HG04152, HG01708, HG03006, HG03898, HG02219, HG03774, HG00240, NA21142, HG01589, HG03940, HG03694, NA20872, HG00155, HG04219, HG03778, HG02684, HG04216, HG04134, HG03809, NA21144, HG01678, HG01131, HG00366, HG00353, HG04239, HG00136, HG02651, NA20520, HG02685, HG01137, HG00116, NA20797, NA12874, NA12347, HG03973, NA21125, HG01785, HG01606, HG02700, HG01491, HG03642, NA20849, HG04014, HG02699, HG03022, HG01085, HG00174, NA12830, HG04209, HG03684, HG04098, NA11843, NA20528, HG01105, HG01251

Known Genes

PSD3

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3616522

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	176
Observed Complex	0
Frequency	n/a