Variant Details

Variant: esv2678491

Internal ID

9597910

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:67479902..67480220	hg38	UCSC Ensembl
	chr16:67513805..67514123	hg19	UCSC Ensembl

Cytoband

16q22.1

Allele length

Assembly	Allele length
hg38	319
hg19	319

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6051283, essv6495639, essv6586069, essv6492516, essv6507324, essv5734433, essv6542493, essv5536159, essv5779055, essv6572228, essv5522016, essv6054583, essv5938199, essv6381182, essv6430584, essv5463360, essv5529289, essv6217822, essv6375317, essv6162617, essv6493005, essv5421408, essv6021423, essv5893805, essv5992667, essv5671481, essv5957267, essv5872195, essv6298032, essv6234323, essv5914565, essv6496454, essv5478483, essv5726776, essv5956308, essv6572857, essv5591743, essv6300777, essv6305857, essv5770558, essv6492846, essv6325140, essv6454989, essv6351079, essv5730088, essv6224499, essv5550720, essv6459035, essv5516488, essv6406045, essv6428921, essv5640213, essv5767649, essv6371070, essv5594924, essv6395056, essv5922979, essv5636551, essv6068191, essv5896573, essv5964798, essv6286109, essv5402835, essv6346207, essv5616743, essv6247172, essv6542561, essv5589131, essv5560412, essv5903284, essv6222254, essv6302249, essv5813719, essv5727103, essv6243312, essv5964123, essv5876332, essv5501791, essv5724898, essv5943895, essv5612350, essv6147262, essv5743642, essv6546042, essv5658043, essv5839463, essv6001393, essv5830441, essv5812021, essv6564682, essv6546286, essv5824064, essv5429498, essv6121677, essv5524386, essv6164812, essv6096826, essv5758080, essv5788160, essv5773920, essv5969159, essv6273138, essv6042496, essv6431647, essv6014779, essv5523536, essv6344828, essv5599550, essv6144545, essv6071105, essv5571402, essv5661144, essv6125855, essv5979186, essv5523708, essv6573907, essv6550963, essv6129060, essv6111070, essv5941946, essv5946642, essv6144216, essv6217545, essv5778845, essv6044049, essv5882747, essv6479081, essv6554017, essv5889119, essv5709799, essv5540551, essv6066493, essv6595471, essv6331722, essv5741921, essv6558110, essv5836750, essv5846635, essv6379954, essv6103576, essv5450572, essv5698426, essv6094121, essv5818194, essv5622719, essv6492289, essv5731799, essv6289024, essv5909668, essv6234949, essv5549391, essv5559877, essv6288750, essv6083527, essv5599796, essv6368678, essv5780254, essv5442709, essv6253932, essv5608288, essv5767456, essv5936139, essv5542564, essv6392737, essv5786513, essv6424509, essv5676025, essv6143103, essv6349882, essv5667530, essv5749759, essv6354170, essv6101522, essv5670159, essv5604515, essv6266604, essv5847700, essv5955912, essv6591168, essv5626834, essv5736361, essv5926724, essv6031595, essv5720665, essv6303975, essv5695871, essv5967228, essv5494872, essv5767144, essv5899637, essv5991744, essv6171486, essv6598114, essv5681118, essv5457522, essv6424047, essv6033135, essv6108166, essv6288761, essv5460603, essv6132246, essv6076113, essv6452983, essv5821321, essv5834510, essv5551116, essv6206350, essv5407388, essv6502197, essv6134385, essv5862084, essv6350174, essv6593588, essv6186610, essv5524943, essv5705604, essv5576868, essv5847034, essv6225573, essv5758161, essv6331247, essv6570207, essv6253915, essv6437159, essv5977013, essv6208997, essv5997515, essv5513891, essv6132664, essv6269504, essv6165821, essv5411252, essv5409651, essv5560711, essv6347024, essv5675013, essv5799768, essv5434391, essv6246419, essv5537025, essv6151939, essv5714157

Samples

NA19394, NA18502, NA19701, NA20761, HG00143, NA19909, NA19204, NA18861, NA18508, NA20783, NA20752, NA19350, NA19359, NA20294, NA19355, NA18504, NA19377, HG00737, NA19443, HG01051, NA20356, NA18510, NA19107, NA12813, HG00641, NA19373, NA19171, NA19379, NA19319, NA19315, NA18923, HG01492, NA18960, NA18916, NA07048, NA07347, NA19457, NA19904, NA19384, NA20291, NA19130, NA20539, NA20278, NA18868, NA19372, NA19238, NA19235, NA19207, NA19172, NA19239, NA20127, NA19985, NA18867, HG01124, NA19908, NA12489, NA20800, NA19403, NA18933, NA19455, NA18871, NA18907, NA19461, NA19453, NA18912, NA19099, NA19452, NA18523, NA19469, NA19318, NA19395, NA19625, NA18858, HG01107, NA18974, NA18953, NA19375, HG00258, NA19440, NA19390, NA19256, NA19147, NA18517, NA19712, NA19434, NA19444, NA19331, NA20790, HG01375, NA19835, NA19428, NA19311, HG01113, NA18501, NA06994, NA19223, NA19474, NA19093, NA19102, NA18873, NA11843, NA19116, NA19711, NA19900, NA19129, NA11892, NA19316, NA19312, NA18968, NA12006, NA19463, NA19346, NA18487, NA19431, HG00096, HG00114, NA19648, NA20543, NA19397, NA18924, HG01359, NA19332, HG01079, NA18561, NA19704, NA18507, NA18599, NA18917, NA19092, NA18486, HG01465, NA18545, NA19819, NA19393, NA19190, NA19098, NA18870, NA12155, NA12413, NA18967, NA19374, NA19396, NA19381, HG01366, HG01070, NA19201, NA19382, NA18489, NA20586, NA19119, NA19198, NA19916, HG00330, NA19131, NA11992, NA19197, NA19313, NA12287, NA18498, NA19404, HG01067, NA19383, NA18874, NA19137, NA20340, NA19371, NA19385, NA19471, NA19159, NA20811, NA19901, NA19189, NA18520, NA19209, NA19445, NA18908, NA19451, NA19200, NA11831, HG01183, NA19247, NA19210, NA19437, HG01360, NA19707, NA18934, HG00328, NA19462, NA19347, NA19152, NA19391, NA19236, NA18516, NA19982, NA18910, NA18976, NA20344, NA19114, NA19449, NA19655, NA18499, NA18856, NA18853, NA20282, NA19257, NA19225, NA19160, HG01204, NA19436, NA20296, NA19401, NA18909, NA19834, NA19108, NA19473, NA19435, NA19240, NA19380, NA19144, NA19439, NA19467, HG01108, NA19818, NA19376, NA19398, HG00111, NA18971, HG01491, NA19438, NA19472, NA12830, NA18972, HG00372, HG01377, NA18505, NA18488, HG01082, NA18511, NA18522, NA19153, NA18562, NA18965

Known Genes

ATP6V0D1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2678491

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	242
Observed Complex	0
Frequency	n/a