Variant Details

Variant: esv3641565

Internal ID

6681650

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr18:2659473..2734291	hg38	UCSC Ensembl
	chr18:2659472..2734289	hg19	UCSC Ensembl

Cytoband

18p11.32

Allele length

Assembly	Allele length
hg38	74819
hg19	74818

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15778233, essv15778324, essv15778232, essv15778204, essv15778182, essv15778223, essv15778215, essv15778302, essv15778219, essv15778259, essv15778283, essv15778209, essv15778175, essv15778266, essv15778203, essv15778138, essv15778330, essv15778298, essv15778148, essv15778304, essv15778195, essv15778320, essv15778188, essv15778305, essv15778168, essv15778145, essv15778139, essv15778275, essv15778263, essv15778260, essv15778165, essv15778248, essv15778230, essv15778255, essv15778162, essv15778207, essv15778312, essv15778216, essv15778262, essv15778222, essv15778178, essv15778243, essv15778316, essv15778194, essv15778210, essv15778200, essv15778218, essv15778254, essv15778239, essv15778157, essv15778271, essv15778286, essv15778171, essv15778169, essv15778173, essv15778237, essv15778287, essv15778226, essv15778198, essv15778152, essv15778297, essv15778193, essv15778208, essv15778197, essv15778293, essv15778247, essv15778311, essv15778155, essv15778284, essv15778161, essv15778180, essv15778192, essv15778189, essv15778224, essv15778177, essv15778329, essv15778238, essv15778184, essv15778308, essv15778277, essv15778159, essv15778174, essv15778291, essv15778211, essv15778144, essv15778199, essv15778227, essv15778300, essv15778314, essv15778294, essv15778245, essv15778327, essv15778150, essv15778317, essv15778278, essv15778229, essv15778289, essv15778221, essv15778164, essv15778142, essv15778301, essv15778292, essv15778220, essv15778319, essv15778246, essv15778273, essv15778257, essv15778206, essv15778186, essv15778261, essv15778153, essv15778282, essv15778212, essv15778181, essv15778256, essv15778190, essv15778299, essv15778158, essv15778313, essv15778249, essv15778285, essv15778176, essv15778146, essv15778225, essv15778322, essv15778172, essv15778288, essv15778323, essv15778307, essv15778264, essv15778141, essv15778281, essv15778231, essv15778143, essv15778214, essv15778185, essv15778241, essv15778251, essv15778258, essv15778242, essv15778179, essv15778154, essv15778149, essv15778290, essv15778234, essv15778321, essv15778318, essv15778201, essv15778240, essv15778213, essv15778296, essv15778156, essv15778244, essv15778310, essv15778270, essv15778187, essv15778309, essv15778250, essv15778196, essv15778205, essv15778191, essv15778166, essv15778276, essv15778228, essv15778217, essv15778183, essv15778147, essv15778325, essv15778272, essv15778269, essv15778267, essv15778326, essv15778252, essv15778295, essv15778167, essv15778202, essv15778268, essv15778253, essv15778280, essv15778328, essv15778265, essv15778163, essv15778303, essv15778274, essv15778170, essv15778315, essv15778279, essv15778235, essv15778151, essv15778306, essv15778160, essv15778236, essv15778140

Samples

HG03686, HG01061, HG03989, HG03864, HG01976, HG03741, HG04212, HG04210, HG00189, HG03773, HG01412, HG04096, HG02652, NA19055, HG03652, HG02072, HG01303, HG03228, HG03965, HG03960, HG04222, HG03237, HG01855, HG04229, HG02784, HG02648, HG04202, HG03767, HG03738, HG04211, HG03717, HG02727, HG01970, HG02078, NA19350, HG02691, HG02600, NA12004, HG03963, HG03772, HG04018, HG03229, HG01971, HG03895, HG02734, HG02688, HG03836, HG03999, HG03679, HG03478, NA18988, HG04059, HG03782, HG03837, HG04100, HG03645, HG03770, HG03016, HG03705, HG03640, HG04022, HG03943, HG03757, HG03754, HG03490, HG04042, HG01968, HG03736, HG02549, HG01599, HG02655, HG03978, HG03479, HG02733, HG02603, HG02786, HG01859, HG03868, HG03851, HG04214, HG03986, HG01170, HG04106, HG03624, HG03947, HG03693, HG04238, HG04047, HG03744, HG02780, HG04075, HG02737, HG03844, HG03780, HG03785, HG03714, HG02793, HG02345, HG03644, HG02697, HG03786, HG01162, HG04107, HG04035, HG03945, HG03775, HG04019, HG02728, HG03756, HG02165, HG03781, HG01889, HG04235, HG02789, HG01092, HG03871, HG03730, HG03858, HG02577, HG03713, HG01197, HG02604, HG02657, HG03631, HG03974, HG03740, HG03643, HG04017, HG03953, HG04063, HG03971, HG03745, HG03634, HG02783, HG02724, HG02601, HG03752, HG03755, HG03991, HG03898, HG03774, HG02127, HG03694, HG04200, HG03653, HG03743, HG03720, HG03238, HG01858, HG03866, HG03848, HG02684, HG04006, HG01954, HG04026, HG03875, HG02049, HG03708, HG00742, HG04239, HG02696, HG03949, HG03838, HG02790, HG03899, HG03695, HG03692, HG03727, HG04003, HG03681, HG02558, HG03703, HG04080, HG03729, HG02700, HG04015, HG03789, HG03642, HG03896, HG01846, HG03716, HG03684, HG01872, HG03872, HG02681, HG02774, HG03856, HG04056, HG02778, HG03890, HG01886, HG03867, HG03985

Known Genes

SMCHD1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3641565

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	193
Observed Complex	0
Frequency	n/a