Variant Details

Variant: esv3590420

Internal ID

6977749

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:38717697..38719929	hg38	UCSC Ensembl
Inner	chr2:38717698..38719929	hg38	UCSC Ensembl
Outer	chr2:38717697..38719930	hg38	UCSC Ensembl
	chr2:38944839..38947071	hg19	UCSC Ensembl
Inner	chr2:38944840..38947071	hg19	UCSC Ensembl
Outer	chr2:38944839..38947072	hg19	UCSC Ensembl

Cytoband

2p22.1

Allele length

Assembly	Allele length
hg38	2233
hg19	2233

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10468261, essv10468379, essv10468304, essv10468303, essv10468257, essv10468407, essv10468404, essv10468360, essv10468286, essv10468338, essv10468373, essv10468371, essv10468320, essv10468302, essv10468273, essv10468270, essv10468378, essv10468263, essv10468339, essv10468385, essv10468363, essv10468353, essv10468301, essv10468400, essv10468334, essv10468289, essv10468260, essv10468315, essv10468288, essv10468326, essv10468316, essv10468376, essv10468282, essv10468332, essv10468361, essv10468307, essv10468357, essv10468324, essv10468319, essv10468281, essv10468321, essv10468330, essv10468359, essv10468341, essv10468384, essv10468356, essv10468401, essv10468331, essv10468348, essv10468313, essv10468355, essv10468342, essv10468406, essv10468325, essv10468287, essv10468272, essv10468364, essv10468310, essv10468386, essv10468374, essv10468328, essv10468267, essv10468381, essv10468392, essv10468323, essv10468317, essv10468337, essv10468382, essv10468284, essv10468296, essv10468256, essv10468391, essv10468271, essv10468265, essv10468369, essv10468322, essv10468276, essv10468395, essv10468292, essv10468291, essv10468354, essv10468370, essv10468388, essv10468345, essv10468294, essv10468279, essv10468295, essv10468397, essv10468309, essv10468306, essv10468280, essv10468380, essv10468408, essv10468390, essv10468300, essv10468351, essv10468308, essv10468312, essv10468335, essv10468347, essv10468275, essv10468402, essv10468264, essv10468372, essv10468398, essv10468311, essv10468278, essv10468367, essv10468262, essv10468394, essv10468327, essv10468255, essv10468352, essv10468403, essv10468344, essv10468358, essv10468389, essv10468269, essv10468314, essv10468362, essv10468383, essv10468396, essv10468297, essv10468298, essv10468350, essv10468368, essv10468285, essv10468346, essv10468387, essv10468277, essv10468393, essv10468274, essv10468333, essv10468343, essv10468293, essv10468258, essv10468268, essv10468399, essv10468377, essv10468329, essv10468336, essv10468266, essv10468254, essv10468365, essv10468340, essv10468305, essv10468366, essv10468318, essv10468299, essv10468375, essv10468405, essv10468349, essv10468283, essv10468259, essv10468290

Samples

HG03690, HG01850, HG00650, HG00542, HG03800, NA21097, HG02250, NA20877, NA18621, HG04194, HG04158, HG03767, HG03738, NA21100, HG02661, NA21092, HG02078, HG04002, HG00729, HG03941, HG02804, HG02600, NA19355, HG04018, NA20864, HG02356, NA18563, HG03235, NA19089, NA21135, NA18550, HG02016, HG03705, NA20861, HG04022, HG03754, HG02491, NA18567, NA18619, HG01843, HG00634, HG01816, NA21108, HG00451, HG02786, HG01859, HG03897, HG03986, HG02490, NA21109, HG02187, NA19075, HG02082, NA20869, HG04020, HG02190, NA19002, NA20884, HG01844, HG03750, NA21114, HG02409, NA21105, HG01851, NA21122, HG02134, HG03862, HG03844, NA19908, HG01841, NA19091, NA19006, HG04146, HG04039, NA21119, NA19086, HG02076, HG02775, HG01810, HG03900, NA21098, HG03159, HG02497, NA18630, HG02364, NA18573, NA20903, HG03858, HG01870, NA21112, NA19031, HG02121, HG01241, NA18946, NA20856, HG00525, NA18963, HG03752, NA18531, NA19395, NA18570, NA18593, HG02408, HG02399, HG02127, HG01596, HG01811, NA21143, NA18608, HG02660, HG01858, NA21113, HG04134, NA18961, HG00565, HG04186, HG01800, NA19010, HG01598, HG03870, NA18943, HG03727, NA21126, HG02019, HG03973, HG04141, HG02181, HG02398, HG02373, HG02401, NA20868, HG03977, HG01028, HG02079, NA21133, HG04209, HG03615, HG02410, HG01600, HG02182, HG03894, HG01883, HG03856, NA19316, HG01863, HG02805, HG01869, HG04153, NA19065, NA18622, HG03686, HG02060, NA21091, HG03989, HG03864

Known Genes

GALM

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3590420

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	155
Observed Complex	0
Frequency	n/a