Variant Details

Variant: esv3585245

Internal ID

6625564

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:12833682..12888946	hg38	UCSC Ensembl
Inner	chr1:12834183..12888448	hg38	UCSC Ensembl
Outer	chr1:12832682..12889942	hg38	UCSC Ensembl
	chr1:12893536..12948772	hg19	UCSC Ensembl
Inner	chr1:12894036..12948272	hg19	UCSC Ensembl
Outer	chr1:12892536..12949772	hg19	UCSC Ensembl

Cytoband

1p36.21

Allele length

Assembly	Allele length
hg38	55265
hg19	55237

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv6e214

Supporting Variants

essv9857591, essv9857682, essv9857745, essv9857650, essv9857782, essv9857613, essv9857711, essv9857777, essv9857698, essv9857602, essv9857631, essv9857731, essv9857570, essv9857619, essv9857640, essv9857741, essv9857656, essv9857644, essv9857633, essv9857625, essv9857734, essv9857611, essv9857764, essv9857628, essv9857781, essv9857673, essv9857627, essv9857753, essv9857645, essv9857727, essv9857760, essv9857617, essv9857785, essv9857768, essv9857677, essv9857618, essv9857758, essv9857626, essv9857738, essv9857681, essv9857615, essv9857621, essv9857595, essv9857674, essv9857670, essv9857653, essv9857646, essv9857629, essv9857730, essv9857715, essv9857709, essv9857610, essv9857614, essv9857574, essv9857751, essv9857684, essv9857705, essv9857632, essv9857567, essv9857759, essv9857680, essv9857783, essv9857756, essv9857755, essv9857582, essv9857659, essv9857605, essv9857708, essv9857717, essv9857569, essv9857691, essv9857757, essv9857587, essv9857584, essv9857609, essv9857668, essv9857638, essv9857675, essv9857729, essv9857635, essv9857735, essv9857585, essv9857780, essv9857596, essv9857699, essv9857655, essv9857616, essv9857654, essv9857623, essv9857766, essv9857743, essv9857694, essv9857686, essv9857737, essv9857739, essv9857657, essv9857736, essv9857693, essv9857701, essv9857722, essv9857597, essv9857733, essv9857775, essv9857604, essv9857703, essv9857589, essv9857767, essv9857667, essv9857642, essv9857724, essv9857750, essv9857710, essv9857641, essv9857630, essv9857770, essv9857573, essv9857744, essv9857726, essv9857762, essv9857688, essv9857669, essv9857778, essv9857576, essv9857696, essv9857579, essv9857577, essv9857662, essv9857636, essv9857721, essv9857687, essv9857661, essv9857712, essv9857583, essv9857706, essv9857639, essv9857718, essv9857690, essv9857606, essv9857637, essv9857704, essv9857578, essv9857774, essv9857765, essv9857695, essv9857752, essv9857761, essv9857568, essv9857697, essv9857679, essv9857592, essv9857666, essv9857588, essv9857581, essv9857700, essv9857773, essv9857658, essv9857749, essv9857716, essv9857600, essv9857685, essv9857608, essv9857771, essv9857671, essv9857747, essv9857707, essv9857652, essv9857624, essv9857772, essv9857692, essv9857746, essv9857725, essv9857702, essv9857720, essv9857689, essv9857719, essv9857607, essv9857590, essv9857575, essv9857713, essv9857660, essv9857586, essv9857649, essv9857742, essv9857732, essv9857683, essv9857714, essv9857665, essv9857763, essv9857571, essv9857740, essv9857634, essv9857776, essv9857603, essv9857728, essv9857598, essv9857779, essv9857664, essv9857594, essv9857723, essv9857601, essv9857572, essv9857784, essv9857620, essv9857580, essv9857678, essv9857643, essv9857593, essv9857651, essv9857754, essv9857566, essv9857622, essv9857648, essv9857672, essv9857663, essv9857748, essv9857769, essv9857599, essv9857565, essv9857647, essv9857676, essv9857612

Samples

NA19431, NA18965, NA12383, HG03812, NA12717, HG01412, HG00442, NA19222, NA19700, HG00304, HG02272, HG01462, HG02002, NA12286, HG01624, HG01961, NA19066, NA21127, NA10851, HG02298, HG00358, HG02026, HG01537, HG00100, HG01326, HG01280, HG02150, NA19734, HG03241, HG00257, HG00244, HG01305, HG03298, HG03616, HG02277, HG01802, HG01944, HG01971, HG02271, HG01947, NA19443, NA12400, HG02285, HG03950, NA18969, NA12413, HG01924, NA20814, HG03837, NA19746, HG01506, HG01350, HG03086, HG01953, HG01682, HG03135, HG03757, HG03722, NA20589, NA19762, NA20890, HG01177, NA20320, HG01997, HG01676, HG04206, NA18567, HG01968, HG02266, HG01599, HG03342, HG02854, HG02301, HG02299, NA19023, HG01354, NA19771, HG03040, HG01372, HG00185, NA19038, NA18611, HG01893, HG02252, HG00120, HG01628, NA12044, NA19024, HG03888, HG01369, HG01308, HG03693, HG01892, NA19087, HG01950, HG01932, HG01048, HG03267, NA21114, HG02715, HG01967, NA19789, HG03784, HG01312, HG01942, HG01565, HG01124, NA18614, HG01183, HG03902, NA18613, NA12489, NA19437, HG00176, HG03007, HG02345, HG01344, HG01162, HG02449, NA18991, HG01938, HG01979, NA20314, NA19663, HG02731, HG03711, HG00584, HG01989, HG01845, HG01142, HG01498, HG04019, NA21118, HG02968, HG01323, HG04177, NA18981, HG04235, HG03823, HG01102, NA19114, HG03730, NA20859, HG03951, HG00479, NA19031, HG02259, HG01921, HG01101, HG00140, NA19740, HG03046, HG02666, NA18963, HG02286, HG03755, HG01936, HG01988, HG01572, HG00126, NA18593, NA12546, HG04093, HG00445, HG01990, NA19017, HG03238, NA19652, HG03028, HG02282, HG04006, NA18559, HG01980, NA21144, NA19735, HG02501, NA19747, HG01131, HG01878, NA19732, HG02304, NA19331, HG00278, NA12873, HG01939, NA20351, NA21123, NA19334, HG01974, NA19428, HG01933, HG01113, NA19786, HG02464, NA19741, NA19083, NA12874, HG01342, NA20887, NA19475, NA06994, HG02147, NA21102, HG01055, NA19726, HG03538, NA18983, HG01251, NA19661, HG01377, NA19755, HG03856, HG01111, HG01863, HG04161, NA20585, HG03815, HG02406, HG01927, HG01923, HG01578

Known Genes

HNRNPCL1, LOC649330, PRAMEF2, PRAMEF4

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3585245

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	221
Observed Complex	0
Frequency	n/a