Variant Details

Variant: esv3588822

Internal ID

6629113

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:216058141..216058660	hg38	UCSC Ensembl
Inner	chr1:216058142..216058660	hg38	UCSC Ensembl
Outer	chr1:216058141..216058661	hg38	UCSC Ensembl
	chr1:216231483..216232002	hg19	UCSC Ensembl
Inner	chr1:216231484..216232002	hg19	UCSC Ensembl
Outer	chr1:216231483..216232003	hg19	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	520
hg19	520

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10293322, essv10293334, essv10293161, essv10293249, essv10293214, essv10293261, essv10293378, essv10293212, essv10293239, essv10293246, essv10293164, essv10293323, essv10293276, essv10293379, essv10293456, essv10293266, essv10293291, essv10293326, essv10293387, essv10293476, essv10293391, essv10293194, essv10293434, essv10293385, essv10293311, essv10293222, essv10293437, essv10293471, essv10293284, essv10293425, essv10293176, essv10293190, essv10293435, essv10293300, essv10293356, essv10293454, essv10293242, essv10293339, essv10293332, essv10293360, essv10293195, essv10293225, essv10293344, essv10293170, essv10293462, essv10293169, essv10293277, essv10293401, essv10293295, essv10293228, essv10293305, essv10293474, essv10293174, essv10293365, essv10293160, essv10293241, essv10293202, essv10293333, essv10293458, essv10293467, essv10293234, essv10293290, essv10293374, essv10293393, essv10293399, essv10293461, essv10293257, essv10293307, essv10293296, essv10293349, essv10293430, essv10293227, essv10293279, essv10293292, essv10293351, essv10293313, essv10293450, essv10293419, essv10293384, essv10293460, essv10293198, essv10293206, essv10293262, essv10293389, essv10293466, essv10293317, essv10293240, essv10293256, essv10293441, essv10293199, essv10293335, essv10293464, essv10293216, essv10293191, essv10293449, essv10293179, essv10293452, essv10293178, essv10293482, essv10293251, essv10293358, essv10293252, essv10293484, essv10293304, essv10293210, essv10293275, essv10293260, essv10293193, essv10293345, essv10293469, essv10293394, essv10293203, essv10293433, essv10293158, essv10293162, essv10293247, essv10293395, essv10293297, essv10293350, essv10293226, essv10293220, essv10293410, essv10293271, essv10293375, essv10293485, essv10293325, essv10293331, essv10293265, essv10293183, essv10293477, essv10293263, essv10293306, essv10293329, essv10293243, essv10293472, essv10293421, essv10293274, essv10293415, essv10293486, essv10293328, essv10293223, essv10293406, essv10293180, essv10293288, essv10293404, essv10293270, essv10293340, essv10293258, essv10293259, essv10293369, essv10293370, essv10293343, essv10293371, essv10293205, essv10293348, essv10293408, essv10293432, essv10293182, essv10293397, essv10293444, essv10293465, essv10293357, essv10293402, essv10293445, essv10293324, essv10293407, essv10293201, essv10293447, essv10293221, essv10293302, essv10293186, essv10293248, essv10293316, essv10293233, essv10293330, essv10293321, essv10293398, essv10293237, essv10293280, essv10293314, essv10293451, essv10293463, essv10293163, essv10293273, essv10293337, essv10293420, essv10293346, essv10293443, essv10293188, essv10293207, essv10293232, essv10293426, essv10293448, essv10293231, essv10293411, essv10293396, essv10293278, essv10293383, essv10293376, essv10293353, essv10293367, essv10293382, essv10293424, essv10293457, essv10293436, essv10293173, essv10293215, essv10293244, essv10293355, essv10293347, essv10293468, essv10293336, essv10293177, essv10293429, essv10293320, essv10293400, essv10293283, essv10293427, essv10293184, essv10293359, essv10293390, essv10293487, essv10293192, essv10293167, essv10293219, essv10293361, essv10293298, essv10293478, essv10293165, essv10293303, essv10293268, essv10293293, essv10293431, essv10293312, essv10293413, essv10293171, essv10293318, essv10293282, essv10293319, essv10293181, essv10293440, essv10293473, essv10293483, essv10293442, essv10293253, essv10293309, essv10293414, essv10293446, essv10293412, essv10293342, essv10293475, essv10293230, essv10293362, essv10293480, essv10293299, essv10293364, essv10293209, essv10293327, essv10293409, essv10293264, essv10293388, essv10293196, essv10293368, essv10293187, essv10293439, essv10293197, essv10293224, essv10293235, essv10293386, essv10293479, essv10293175, essv10293238, essv10293392, essv10293417, essv10293308, essv10293418, essv10293310, essv10293281, essv10293189, essv10293423, essv10293287, essv10293403, essv10293455, essv10293381, essv10293229, essv10293245, essv10293416, essv10293250, essv10293422, essv10293301, essv10293208, essv10293405, essv10293204, essv10293185, essv10293217, essv10293218, essv10293294, essv10293236, essv10293338, essv10293459, essv10293363, essv10293286, essv10293172, essv10293211, essv10293272, essv10293289, essv10293428, essv10293438, essv10293453, essv10293166, essv10293200, essv10293213, essv10293354, essv10293372, essv10293159, essv10293373, essv10293269, essv10293470, essv10293377, essv10293315, essv10293352, essv10293341, essv10293366, essv10293168, essv10293255, essv10293267, essv10293380, essv10293481, essv10293285, essv10293254

Samples

HG02470, HG02808, NA19207, HG00309, NA18870, NA19248, HG02107, NA19312, HG03160, NA12154, HG02854, NA12489, NA20787, NA19031, HG00257, HG03382, HG01284, HG01353, HG00551, NA12342, HG01089, NA19114, HG01882, HG00171, NA20510, NA19093, HG02549, HG02255, HG03086, HG02223, NA19223, NA10847, HG01389, NA20296, HG03057, NA18517, NA19449, HG00148, HG01537, NA19920, NA12005, HG03298, HG01606, HG01762, HG02497, HG01958, HG02322, NA19378, HG01101, HG02613, HG03485, HG03380, NA18488, NA19355, NA19474, HG03268, NA18505, HG02583, NA12341, HG01682, NA19037, NA18868, HG01784, NA19043, HG01435, HG02308, NA20770, NA19117, HG01311, HG03558, HG01107, HG02053, NA19463, HG03088, HG00158, NA11919, NA18912, HG03470, HG00371, NA18934, HG00179, NA18508, HG01456, HG03575, HG01510, NA19735, HG02462, NA19309, NA20764, HG02009, HG03202, NA19197, NA19443, HG01756, NA19471, NA20757, NA19722, HG01061, HG02968, HG03578, HG04153, HG00231, HG01183, HG02012, HG01272, HG03436, HG03439, HG02557, HG03241, NA07048, NA19351, HG00149, HG02763, NA11933, HG03520, NA20765, HG02851, HG03130, NA11843, HG01161, NA11995, NA18916, HG03079, NA19679, HG00276, HG00284, HG02595, NA19457, NA12234, HG00237, HG03114, NA19042, HG00133, NA19324, NA12751, NA19190, HG03063, NA19213, HG01443, HG01242, NA19360, HG02814, NA19380, HG03126, NA19153, NA20587, HG02442, HG02325, HG03190, HG02449, NA19372, HG01308, HG00268, NA20348, NA19384, HG03455, HG00185, NA20795, NA19102, NA20753, HG02337, NA19119, NA19657, NA21141, HG02439, HG02573, NA19098, HG00239, HG01170, HG02429, HG02558, NA18504, NA19175, NA18858, HG03096, HG03366, NA18878, HG02852, HG04162, HG02545, NA19131, NA19159, NA19328, HG02479, HG02536, HG02586, NA20355, NA20891, HG01149, HG01566, HG03224, NA19921, HG02923, NA19035, NA19391, HG03499, NA19201, HG01626, NA19403, HG03246, HG02953, NA19741, NA19431, HG03172, NA20298, HG02628, HG03872, NA20287, HG03198, NA19446, HG01390, HG03105, NA18879, HG03476, NA18864, HG01485, HG01464, HG02465, HG02837, HG01619, HG03074, HG01886, HG03259, HG02679, NA19160, HG01275, HG02256, HG03025, NA18499, HG01912, HG03139, HG03077, NA19198, HG03270, HG02445, NA19171, HG01791, HG00324, HG01892, HG01985, HG03271, HG03372, NA18853, HG00183, HG03117, NA19113, HG01522, HG00137, HG02315, HG02555, HG02813, NA20870, HG02051, HG03517, NA19185, HG02013, NA19454, HG02332, HG03907, NA18881, NA19385, NA19750, HG00271, HG02820, HG00107, NA18519, NA07000, NA19121, NA19466, HG01067, HG03095, HG00128, HG03091, HG00327, HG03082, HG00323, HG02890, NA12827, NA12718, HG03058, NA19152, NA19445, HG01775, NA12249, NA18861, NA19436, HG00356, HG02108, HG01241, HG01603, HG01250, HG03521, HG00743, NA19222, HG04156, NA19404, HG00127, HG03342, HG02546, HG03410, NA19310, NA19401, HG02759, NA19149, HG01054, NA19455, NA20299, NA20294, HG03313, HG02979, HG02974, NA18877, HG02952, HG01956, HG03046, NA19451, NA20905, HG02887, NA19338, NA19184, HG01286, NA19461, HG02314, NA20900, NA19017, HG01204, HG03401, HG02760, HG03548, NA20314

Known Genes

USH2A

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3588822

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	330
Observed Complex	0
Frequency	n/a