Variant Details

Variant: esv2658595

Internal ID

9924700

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr6:166585488..166586678	hg38	UCSC Ensembl
	chr6:166998976..167000166	hg19	UCSC Ensembl

Cytoband

6q27

Allele length

Assembly	Allele length
hg38	1191
hg19	1191

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv1170e199

Supporting Variants

essv6360486, essv5935381, essv6046046, essv6158472, essv6562175, essv6184110, essv6117700, essv5886512, essv5810276, essv5489075, essv5888327, essv6399878, essv5421213, essv5720091, essv5704496, essv6550143, essv6065095, essv6164521, essv5706046, essv5726633, essv6416283, essv6355632, essv5792133, essv6572739, essv5596476, essv5987158, essv6199991, essv6004826, essv5837542, essv6417076, essv5771371, essv5776785, essv6425590, essv6570454, essv5686967, essv6049215, essv6361854, essv5402895, essv6390084, essv6150128, essv5496923, essv6487801, essv5922040, essv5669127, essv6185536, essv6511858, essv5635841, essv5621910, essv5720410, essv6100892, essv6208001, essv5745004, essv6277345, essv5875198, essv6367773, essv6528242, essv5924132, essv6230425, essv5537583, essv6289149, essv6282494, essv5535909, essv6186965, essv6574995, essv5917681, essv6018291, essv5838735, essv6000172, essv5522707, essv6037420, essv6223576, essv5806782, essv6567441, essv6534597, essv5843049, essv5459770, essv6289572, essv6074554, essv6017576, essv5768076, essv6480590, essv6354130, essv5779433, essv6221880, essv5894159, essv6134328, essv5539625, essv6518941, essv5893316, essv5761686, essv6513812, essv5583841, essv6299104, essv6039226, essv6031024, essv5940390, essv6172410, essv6159186, essv5896707, essv5963094, essv6339662, essv5404964, essv6450935, essv5986125, essv5714903, essv6572276, essv5896932, essv5683653, essv6538171, essv6451246, essv5764659, essv5431894, essv6187198, essv6242615, essv5748003, essv6315427, essv5631932, essv5737435, essv6535556, essv5995480, essv5449127, essv6559820, essv6471192, essv6428152, essv6059760, essv5423812, essv5508970, essv5785779, essv5644645, essv6082331, essv6416838, essv5434158, essv5409910, essv5794197, essv5960863, essv5537904, essv6477889, essv5521483, essv5757492, essv5512205, essv5601375, essv6226921, essv6068125, essv6067514, essv6085499, essv5684545, essv5820233, essv5881789, essv5770694, essv5606795, essv5757560, essv5503254, essv6097943, essv6140061, essv6069379, essv6572036, essv6352048, essv6524841, essv6471661, essv6113868, essv6214777, essv6557297, essv5867886, essv6283704, essv6204732, essv5519979, essv5554032, essv6449536, essv6129691, essv5595414, essv5456334, essv6298187

Samples

NA18502, NA19701, NA19700, NA19703, NA19397, NA19909, NA19466, NA19204, NA18861, NA18508, NA19399, HG01052, NA19332, NA19704, NA18507, HG00640, NA19350, NA19359, NA19092, NA18486, NA20332, NA19377, NA20346, NA19443, NA18870, NA19920, NA18510, NA19107, NA19446, NA19396, NA19381, NA19171, NA19379, NA18519, HG01070, NA19319, NA19201, NA19382, NA19315, NA18489, NA19448, NA19119, NA19198, NA20317, NA19916, NA19131, NA18916, NA19313, NA20287, NA19384, NA20291, NA19130, NA19404, HG01067, NA19383, NA18868, NA19137, NA19371, NA19238, NA19235, NA19172, NA19471, NA19317, NA19901, NA19189, NA19239, HG01048, NA20342, NA19209, NA19456, NA19445, NA20127, NA18908, NA18867, NA19921, NA19451, NA19200, NA11993, NA19247, NA19210, NA19657, NA19437, HG01171, NA19403, NA19462, NA19347, NA18933, NA19391, NA19327, NA19717, NA19455, NA19236, NA18516, NA19982, NA20126, NA18910, NA18871, NA18981, NA18907, NA19114, NA19449, NA11894, NA18856, HG01101, NA18853, NA19099, NA19338, NA19257, NA19452, NA19225, NA18523, NA19469, NA19160, NA19395, NA19625, NA18858, NA18945, NA19436, NA19401, NA19375, NA19652, NA19440, NA19390, NA18909, HG01190, NA19834, NA19321, NA19108, NA19256, NA19147, NA19712, NA19434, HG01551, NA19435, NA19444, NA19331, NA19240, NA19380, NA19334, NA19470, NA19428, NA19467, NA19360, HG01342, NA19818, NA19376, NA19398, NA19328, NA20348, NA19248, NA19472, NA19223, NA19468, NA19474, NA19093, NA19102, NA18873, NA19116, NA19711, NA19213, NA19430, NA18505, NA19129, NA18488, NA19312, HG01125, NA18511, NA18522, NA19429, NA19346, NA18487, NA19153

Known Genes

RPS6KA2

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2658595

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	172
Observed Complex	0
Frequency	n/a