Variant Details

Variant: esv2678225

Internal ID

9597644

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr4:2627385..2627532	hg38	UCSC Ensembl
	chr4:2629112..2629259	hg19	UCSC Ensembl

Cytoband

4p16.3

Allele length

Assembly	Allele length
hg38	148
hg19	148

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5732014, essv6088078, essv5998289, essv5672952, essv5926849, essv5791537, essv6481871, essv5971162, essv6145530, essv5840155, essv5978040, essv5428640, essv5938260, essv5991286, essv5433029, essv5504013, essv6351485, essv5411897, essv5523367, essv5553201, essv5431293, essv5481845, essv5585704, essv6082967, essv6558736, essv5696337, essv5567052, essv6091745, essv5525141, essv6547647, essv6133648, essv6011620, essv5524202, essv6076623, essv5726487, essv5881949, essv6066917, essv5857300, essv6140741, essv6040050, essv5563093, essv5970318, essv5399422, essv5610660, essv5523358, essv6139865, essv6253178, essv5796064, essv6460288, essv5527002, essv6276485, essv6181744, essv6052334, essv6536299, essv6002487, essv5694438, essv5583549, essv5706333, essv6317899, essv5978327, essv5681509, essv6094281, essv6493586, essv5891513, essv5741366, essv6213537, essv6154980, essv6531682, essv6244559, essv6577816, essv6104956, essv5696068, essv6544640, essv6177387, essv6552758, essv6311907, essv6561438, essv5619671, essv5859325, essv5594785, essv5957456, essv5438047, essv6540422, essv5521985, essv5918584, essv6418665, essv5897868, essv6286585, essv6286486, essv5851006, essv6079090, essv6061250, essv5467564, essv6209871, essv5959554, essv5446078, essv6378823, essv6568968, essv5913398, essv6196574, essv6090440, essv6419921, essv5589264, essv5657183, essv5693535, essv6446051, essv6318145, essv6488050, essv6314671, essv6524219, essv6112026, essv6218761, essv5729033, essv6021323, essv6404697, essv6279272, essv5706308, essv6079335, essv6547393, essv6231365, essv5794835, essv5954217, essv6277356, essv5786046, essv6238848, essv6528562, essv5987685, essv5689785, essv5712799, essv6229755, essv6189359, essv6112123, essv6060045, essv6060477, essv5727845, essv5538597, essv5419253, essv6418836, essv5409974, essv6273721, essv6149909, essv6464244, essv6169691, essv5616608, essv6563011, essv5928600, essv5986630, essv5618891, essv5906755, essv6513191, essv5572025, essv6130302, essv6341246, essv5528992, essv5745780, essv5575082, essv5921647, essv5420615, essv6012964, essv6135335, essv5719854, essv6393647, essv6112915, essv6078501, essv5900094, essv5685277, essv5457489, essv6494466, essv6253227, essv6060360, essv5726747, essv5588462, essv6022074, essv5819530, essv6300997, essv5436303, essv6246560, essv5598887, essv5408983, essv5510476, essv5833246, essv6084141, essv5420227, essv6364934, essv5893943, essv6553307, essv6417251, essv6046857, essv5416453, essv6049743, essv5490511, essv6533824, essv6338123, essv5801186, essv5607125, essv5616714, essv5469924, essv6502570, essv5607768, essv5525726, essv6009986, essv5406637, essv5860534, essv6093237, essv5875646, essv5911028, essv6056663, essv6460029, essv5446704, essv6281490, essv5574079, essv6258858, essv6543267, essv5442085, essv6192683, essv5759399, essv6400290, essv6470591, essv5729259, essv6153660, essv5741954, essv6058805, essv6354955, essv5765018, essv5518895, essv6343551, essv5972596, essv5820299, essv6129388, essv6173796, essv5587342

Samples

NA20761, HG01462, NA20766, HG00671, HG00559, HG01066, HG00151, NA20816, NA20512, NA12751, HG00153, NA18530, NA18959, HG00115, NA20517, NA18602, NA18988, HG00663, HG00138, HG01350, HG00589, NA18597, NA20798, HG01351, NA18558, HG01492, NA18960, NA18582, NA18571, HG01083, HG01365, HG00537, HG00243, NA19130, NA18949, HG00158, HG00512, HG00139, HG01069, NA20812, HG00325, HG00232, HG00705, NA18557, HG01048, HG01133, NA20757, HG00323, HG00253, NA20755, NA20753, NA12777, NA18605, NA12489, NA20800, HG00443, HG00266, NA19670, HG00557, HG01095, HG00657, NA19717, HG00556, HG00583, HG00344, HG00275, NA18572, NA18534, HG00692, NA19654, HG00284, NA18573, HG00250, HG00479, HG00331, HG00684, HG00140, NA18553, NA18963, HG00246, HG01107, NA18541, HG00254, HG00336, HG00625, NA18564, NA19072, NA12272, NA19010, HG01174, NA20527, HG00473, HG00237, HG01137, HG00116, NA19083, NA19360, HG00418, HG01489, NA12347, HG00339, HG00513, HG00478, NA19779, NA18636, HG00112, HG00280, NA20826, NA19780, NA18983, HG00274, NA18624, NA12890, NA19463, NA18623, NA18612, HG01437, HG00581, NA18577, NA19676, HG00626, NA11830, HG00536, NA11995, HG00524, HG01188, NA20813, NA12045, HG01465, NA19777, NA12058, NA18606, HG01140, NA20537, NA19068, NA19005, NA18944, NA18550, HG01070, NA18595, HG01488, HG00689, NA20586, NA18619, HG00330, NA12348, HG00736, NA11992, HG00346, NA12283, NA20540, NA19771, NA19782, NA19681, HG00590, NA18611, NA19404, HG00277, NA19651, HG01067, HG00120, HG00683, NA06984, HG01170, NA19719, HG00422, NA18986, HG00427, NA20811, HG00338, NA20533, HG00530, HG00464, HG00543, HG01183, HG01136, HG00629, NA19657, NA19082, NA12342, NA20505, HG00428, HG00653, HG00436, HG00584, HG00533, NA18637, NA19788, NA19658, NA20770, NA19776, HG01390, NA18566, HG01073, NA19000, NA19655, HG00117, HG00613, HG00157, NA12827, HG00276, NA18576, NA18546, NA19685, HG00124, HG00119, NA18961, NA18559, HG00565, NA18950, HG00136, NA20804, HG00278, NA20797, NA07037, HG00256, HG00125, HG00707, NA20582, HG00421, HG00329, HG01055, HG00174, HG00698, HG00131, NA20528, NA19661, HG00472, NA07000, HG00437, NA18562

Known Genes

FAM193A

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2678225

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	231
Observed Complex	0
Frequency	n/a