Variant Details

Variant: esv3585244

Internal ID

6625563

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:12818031..12873451	hg38	UCSC Ensembl
Inner	chr1:12818078..12873405	hg38	UCSC Ensembl
Outer	chr1:12817985..12873498	hg38	UCSC Ensembl
	chr1:12877893..12933272	hg19	UCSC Ensembl
Inner	chr1:12877940..12933226	hg19	UCSC Ensembl
Outer	chr1:12877847..12933319	hg19	UCSC Ensembl

Cytoband

1p36.21

Allele length

Assembly	Allele length
hg38	55421
hg19	55380

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv6e214

Supporting Variants

essv9857522, essv9857463, essv9857532, essv9857454, essv9857435, essv9857547, essv9857509, essv9857420, essv9857402, essv9857415, essv9857549, essv9857546, essv9857414, essv9857455, essv9857399, essv9857503, essv9857409, essv9857475, essv9857431, essv9857490, essv9857417, essv9857515, essv9857544, essv9857485, essv9857403, essv9857398, essv9857427, essv9857422, essv9857496, essv9857466, essv9857442, essv9857536, essv9857484, essv9857401, essv9857393, essv9857404, essv9857521, essv9857499, essv9857538, essv9857513, essv9857448, essv9857478, essv9857413, essv9857523, essv9857495, essv9857446, essv9857506, essv9857440, essv9857494, essv9857500, essv9857424, essv9857505, essv9857548, essv9857476, essv9857423, essv9857562, essv9857462, essv9857429, essv9857543, essv9857528, essv9857525, essv9857412, essv9857410, essv9857517, essv9857510, essv9857416, essv9857477, essv9857540, essv9857392, essv9857456, essv9857537, essv9857426, essv9857405, essv9857504, essv9857460, essv9857441, essv9857554, essv9857533, essv9857461, essv9857419, essv9857430, essv9857418, essv9857550, essv9857425, essv9857449, essv9857473, essv9857563, essv9857491, essv9857464, essv9857480, essv9857447, essv9857558, essv9857514, essv9857507, essv9857564, essv9857474, essv9857443, essv9857472, essv9857408, essv9857535, essv9857498, essv9857520, essv9857561, essv9857459, essv9857502, essv9857471, essv9857450, essv9857400, essv9857555, essv9857493, essv9857534, essv9857457, essv9857467, essv9857497, essv9857451, essv9857452, essv9857421, essv9857482, essv9857501, essv9857559, essv9857470, essv9857539, essv9857552, essv9857458, essv9857469, essv9857553, essv9857531, essv9857411, essv9857397, essv9857526, essv9857487, essv9857465, essv9857518, essv9857445, essv9857524, essv9857439, essv9857557, essv9857512, essv9857396, essv9857438, essv9857545, essv9857516, essv9857560, essv9857444, essv9857530, essv9857541, essv9857406, essv9857492, essv9857529, essv9857508, essv9857453, essv9857395, essv9857434, essv9857479, essv9857407, essv9857486, essv9857437, essv9857428, essv9857432, essv9857527, essv9857519, essv9857481, essv9857542, essv9857511, essv9857483, essv9857551, essv9857489, essv9857488, essv9857433, essv9857436, essv9857468, essv9857556, essv9857394

Samples

NA21110, NA12717, HG01412, HG00442, NA19222, NA19700, HG00304, HG02272, HG01462, NA12286, HG01624, HG01961, NA19066, NA21127, NA10851, HG02298, HG02026, HG00100, HG01326, HG01280, HG02150, NA19734, HG00257, HG00244, HG01305, HG02323, HG03298, HG03616, HG02277, HG03926, HG01944, HG01947, NA19443, NA12400, HG03950, NA18969, NA12413, HG01924, NA20814, NA19746, HG01506, HG01350, HG03086, HG01682, HG03135, HG03757, HG03722, HG03452, NA20589, NA19762, HG01177, NA20320, HG01997, HG01676, HG04206, HG02840, NA18567, HG02549, HG02854, HG02301, NA19023, NA19771, HG03040, HG01372, HG02981, NA19038, HG01893, HG02252, HG02490, HG01628, NA12044, NA19024, HG03888, HG01369, HG01308, HG03693, HG01892, NA19087, HG02588, HG01950, HG01932, NA18990, HG01048, HG03267, NA21114, HG02715, HG01967, NA19789, HG03784, HG01942, HG01565, HG01124, NA12489, NA19437, HG01200, HG03007, HG01344, HG01162, HG02449, HG01938, HG01979, NA20314, HG02731, HG01989, HG01142, NA21118, HG01323, HG04177, HG01102, NA19114, HG03730, NA20859, HG03951, NA19031, HG01921, HG01101, NA19740, HG03046, HG02666, NA18963, HG02286, NA20828, HG01936, HG00126, NA12546, HG04093, HG01990, NA19017, HG03238, NA19652, HG03028, HG04006, NA18559, HG01980, HG02501, NA19747, HG01878, NA19732, HG02304, NA19331, HG00278, NA12873, HG01939, NA20351, NA21123, HG01974, NA19428, HG01933, HG01113, NA19786, HG02464, NA19741, NA19083, NA12874, HG01342, NA19475, NA18501, NA06994, HG02700, HG02147, HG01055, HG03060, HG03401, NA18983, HG01251, NA19661, NA19755, HG01111, HG01863, HG04161, HG01923, HG01578, NA19431

Known Genes

HNRNPCL1, LOC649330, PRAMEF11, PRAMEF2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3585244

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	173
Observed Complex	0
Frequency	n/a