Variant Details

Variant: esv3594463

Internal ID

6981783

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:224296690..224302119	hg38	UCSC Ensembl
Inner	chr2:224296740..224302069	hg38	UCSC Ensembl
Outer	chr2:224296510..224302299	hg38	UCSC Ensembl
	chr2:225161407..225166836	hg19	UCSC Ensembl
Inner	chr2:225161457..225166786	hg19	UCSC Ensembl
Outer	chr2:225161227..225167016	hg19	UCSC Ensembl

Cytoband

2q36.1

Allele length

Assembly	Allele length
hg38	5430
hg19	5430

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10865476, essv10865438, essv10865441, essv10865484, essv10865413, essv10865392, essv10865501, essv10865428, essv10865456, essv10865395, essv10865464, essv10865444, essv10865415, essv10865363, essv10865372, essv10865482, essv10865460, essv10865449, essv10865406, essv10865463, essv10865496, essv10865485, essv10865495, essv10865434, essv10865509, essv10865440, essv10865399, essv10865453, essv10865383, essv10865430, essv10865378, essv10865459, essv10865452, essv10865360, essv10865361, essv10865403, essv10865404, essv10865377, essv10865433, essv10865451, essv10865381, essv10865410, essv10865431, essv10865394, essv10865503, essv10865398, essv10865365, essv10865499, essv10865508, essv10865473, essv10865419, essv10865385, essv10865490, essv10865407, essv10865498, essv10865469, essv10865471, essv10865461, essv10865369, essv10865507, essv10865466, essv10865462, essv10865416, essv10865423, essv10865472, essv10865411, essv10865513, essv10865479, essv10865368, essv10865376, essv10865424, essv10865408, essv10865500, essv10865458, essv10865389, essv10865468, essv10865379, essv10865481, essv10865396, essv10865401, essv10865418, essv10865487, essv10865375, essv10865502, essv10865402, essv10865497, essv10865417, essv10865364, essv10865382, essv10865470, essv10865362, essv10865474, essv10865370, essv10865371, essv10865445, essv10865397, essv10865388, essv10865467, essv10865443, essv10865492, essv10865390, essv10865478, essv10865506, essv10865374, essv10865493, essv10865412, essv10865427, essv10865420, essv10865359, essv10865477, essv10865421, essv10865387, essv10865432, essv10865367, essv10865446, essv10865454, essv10865511, essv10865480, essv10865475, essv10865414, essv10865505, essv10865455, essv10865439, essv10865405, essv10865491, essv10865437, essv10865366, essv10865494, essv10865386, essv10865457, essv10865483, essv10865465, essv10865409, essv10865447, essv10865425, essv10865373, essv10865512, essv10865450, essv10865435, essv10865393, essv10865391, essv10865504, essv10865486, essv10865510, essv10865448, essv10865400, essv10865384, essv10865489, essv10865442, essv10865380, essv10865422, essv10865488, essv10865429, essv10865436, essv10865426

Samples

HG03514, NA19394, HG02614, HG01985, NA19701, HG03559, NA19397, NA18924, HG02583, HG01462, NA19909, NA19466, HG03057, HG02419, HG02836, NA18877, HG03558, HG02891, NA18486, HG02870, NA20294, HG03455, HG03126, HG03515, HG02888, HG03372, NA19314, NA18510, HG03199, NA19446, HG03082, NA19201, HG03099, NA19764, HG03499, HG02840, NA20317, HG02854, NA19023, NA19457, NA18498, HG03224, HG03040, NA19130, NA19922, NA19404, NA19923, HG03556, HG02573, NA18868, HG01495, NA19137, NA20340, NA19372, NA19207, NA19317, HG02471, HG02571, HG02946, HG02545, NA18864, HG02623, NA18908, HG03394, NA19451, HG02879, NA19247, HG03363, NA18934, HG01104, HG02582, HG01162, NA19184, NA19327, HG01882, HG01879, NA19236, HG02322, NA18516, NA19982, HG03575, HG01345, HG02014, HG01880, HG02878, HG02537, HG03124, HG01049, HG03301, HG03085, NA19114, HG03382, HG02817, NA19042, HG02309, HG03024, HG03451, HG02292, NA19338, NA19257, HG03046, HG03354, HG02635, HG02586, NA19625, HG02807, NA18909, HG03240, NA19321, NA19108, HG03437, HG03367, NA20276, HG02501, HG02308, NA19473, NA19454, HG02983, HG01915, NA19331, NA19334, HG03433, NA19439, HG01620, HG02464, HG02317, NA19360, HG03419, HG03084, NA19818, HG03442, NA19223, HG03097, NA19351, HG02646, HG03279, NA19474, NA20289, HG03351, NA18876, NA19711, NA19213, HG03077, HG02052, NA19121, HG02861, HG02805, NA18511, NA18522, HG03303, HG02343, NA19429, NA19346, HG01437, HG03166

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3594463

Frequency

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