Variant Details

Variant: esv3647073

Internal ID

7033815

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr21:41929965..41933364	hg38	UCSC Ensembl
Inner	chr21:41929968..41933362	hg38	UCSC Ensembl
Outer	chr21:41929963..41933367	hg38	UCSC Ensembl
	chr21:43350074..43353473	hg19	UCSC Ensembl
Inner	chr21:43350077..43353471	hg19	UCSC Ensembl
Outer	chr21:43350072..43353476	hg19	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	3400
hg19	3400

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16324554, essv16324355, essv16324518, essv16324330, essv16324476, essv16324466, essv16324569, essv16324514, essv16324394, essv16324547, essv16324406, essv16324344, essv16324567, essv16324437, essv16324450, essv16324535, essv16324359, essv16324488, essv16324522, essv16324397, essv16324542, essv16324500, essv16324478, essv16324484, essv16324552, essv16324387, essv16324396, essv16324563, essv16324351, essv16324328, essv16324490, essv16324317, essv16324313, essv16324498, essv16324352, essv16324311, essv16324332, essv16324549, essv16324343, essv16324402, essv16324483, essv16324539, essv16324515, essv16324400, essv16324448, essv16324370, essv16324326, essv16324427, essv16324447, essv16324508, essv16324440, essv16324458, essv16324445, essv16324573, essv16324322, essv16324480, essv16324372, essv16324338, essv16324357, essv16324324, essv16324570, essv16324426, essv16324391, essv16324559, essv16324521, essv16324472, essv16324362, essv16324399, essv16324371, essv16324557, essv16324379, essv16324473, essv16324361, essv16324347, essv16324529, essv16324411, essv16324443, essv16324510, essv16324481, essv16324423, essv16324381, essv16324316, essv16324323, essv16324571, essv16324337, essv16324474, essv16324512, essv16324366, essv16324356, essv16324389, essv16324461, essv16324492, essv16324503, essv16324416, essv16324319, essv16324572, essv16324403, essv16324432, essv16324367, essv16324429, essv16324470, essv16324477, essv16324558, essv16324425, essv16324375, essv16324382, essv16324460, essv16324407, essv16324376, essv16324576, essv16324431, essv16324353, essv16324442, essv16324491, essv16324538, essv16324358, essv16324368, essv16324556, essv16324496, essv16324485, essv16324468, essv16324417, essv16324377, essv16324516, essv16324369, essv16324410, essv16324451, essv16324346, essv16324364, essv16324475, essv16324409, essv16324419, essv16324513, essv16324412, essv16324383, essv16324380, essv16324528, essv16324463, essv16324575, essv16324373, essv16324424, essv16324413, essv16324349, essv16324505, essv16324415, essv16324455, essv16324526, essv16324422, essv16324467, essv16324524, essv16324564, essv16324465, essv16324501, essv16324568, essv16324321, essv16324398, essv16324544, essv16324436, essv16324578, essv16324430, essv16324493, essv16324494, essv16324579, essv16324433, essv16324331, essv16324360, essv16324401, essv16324489, essv16324555, essv16324339, essv16324334, essv16324318, essv16324314, essv16324418, essv16324530, essv16324546, essv16324487, essv16324384, essv16324482, essv16324464, essv16324444, essv16324336, essv16324486, essv16324333, essv16324449, essv16324414, essv16324520, essv16324533, essv16324390, essv16324312, essv16324327, essv16324502, essv16324456, essv16324531, essv16324519, essv16324325, essv16324454, essv16324525, essv16324523, essv16324420, essv16324462, essv16324469, essv16324435, essv16324545, essv16324561, essv16324405, essv16324354, essv16324548, essv16324536, essv16324404, essv16324329, essv16324350, essv16324335, essv16324441, essv16324504, essv16324506, essv16324386, essv16324537, essv16324553, essv16324365, essv16324439, essv16324348, essv16324534, essv16324341, essv16324543, essv16324532, essv16324565, essv16324541, essv16324560, essv16324374, essv16324388, essv16324507, essv16324446, essv16324434, essv16324471, essv16324340, essv16324452, essv16324577, essv16324457, essv16324527, essv16324550, essv16324378, essv16324345, essv16324421, essv16324395, essv16324540, essv16324479, essv16324408, essv16324428, essv16324438, essv16324562, essv16324511, essv16324393, essv16324551, essv16324499, essv16324497, essv16324385, essv16324566, essv16324574, essv16324509, essv16324363, essv16324392, essv16324517, essv16324495, essv16324315, essv16324453, essv16324459, essv16324342, essv16324320

Samples

NA20511, HG02386, HG01850, HG01965, NA18621, HG00242, NA21127, NA12273, NA19378, HG01815, NA20878, HG03717, HG02231, NA18979, HG01066, HG00233, NA20802, HG04076, HG00244, HG02215, HG02688, HG01461, NA20771, HG00337, HG03770, HG00272, HG04038, HG03754, NA20798, HG02156, HG02146, NA18567, HG01492, NA18960, HG03234, NA12762, HG04070, HG03978, HG02733, HG00243, NA20759, HG04183, HG01069, NA20518, NA18966, HG00118, NA18990, HG01198, HG02260, HG01048, HG02780, NA20757, NA21105, NA18539, NA12777, HG01867, HG00266, HG01435, HG01171, NA19056, HG01122, HG04146, HG03718, NA12878, HG02449, HG02253, HG01979, HG03900, NA12718, HG03805, NA18572, HG01796, NA20525, NA20901, NA21124, NA21086, HG00479, NA21112, NA11840, HG02657, HG02141, HG04017, HG04063, HG03971, HG02783, HG03672, HG01680, HG01936, HG03898, HG04118, HG03694, NA19012, HG03720, NA20851, HG04025, NA21117, HG03848, HG02220, NA12272, HG01685, NA19090, HG02391, NA20520, HG01357, HG03702, NA20792, NA20902, HG02274, NA19083, HG01342, NA12347, HG03779, NA20906, NA19785, HG04140, HG02147, NA19770, HG03925, HG02681, HG00728, HG02353, HG01807, NA12890, NA20585, NA12154, HG02406, HG01786, NA11832, HG03741, NA20762, HG00881, HG00235, HG01441, NA11995, HG00361, HG03960, HG01348, HG04194, HG00306, HG00640, HG04094, NA20805, NA19777, HG03772, HG04018, HG01971, HG02394, NA20808, NA07357, NA12413, NA12341, HG01924, NA18967, HG03235, NA19792, NA19746, HG01064, NA20586, HG03765, HG01945, HG03905, NA19649, HG02655, NA12283, NA21103, HG04131, HG03762, HG02786, HG01110, NA20910, HG01455, HG02224, HG01170, HG01813, HG01757, HG01495, NA20340, HG01527, HG03624, HG01405, NA18986, HG04238, HG03995, HG00309, HG01932, NA20811, HG03744, NA20764, HG03750, NA12828, HG03832, NA21122, HG03862, HG01603, NA19007, HG00133, HG01784, HG00188, HG00560, HG02265, NA19082, HG00982, NA20858, NA20787, NA19077, HG00190, HG01515, NA20536, NA19913, HG03945, NA21118, HG02102, HG02470, NA21116, HG01390, HG01615, HG01161, HG01619, HG00110, HG02604, HG02008, HG04155, NA18946, HG01182, HG03740, HG00117, HG00613, HG01708, HG01679, HG00410, NA20542, NA18546, HG02682, HG00136, HG00638, HG00623, HG00308, NA18992, HG00631, HG01205, HG01933, HG02139, NA19085, HG04003, HG00269, HG00107, HG02398, HG01395, HG01432, NA20868, NA20582, HG00378, NA12749, HG00288, NA19713, HG01055, NA21101, HG04209, HG03615, HG02410, HG02239, NA20807, HG01781, HG03922, NA07000, HG01112, HG00554, HG02343, HG01695

Known Genes

C2CD2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647073

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	269
Observed Complex	0
Frequency	n/a