Variant Details

Variant: esv2663688

Internal ID

9929793

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:132563736..132563978	hg38	UCSC Ensembl
	chr12:133140322..133140564	hg19	UCSC Ensembl

Cytoband

12q24.33

Allele length

Assembly	Allele length
hg38	243
hg19	243

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5706147, essv6422952, essv6229589, essv5740178, essv6156725, essv6453234, essv5499739, essv6496621, essv6381645, essv6289252, essv6308310, essv5991990, essv5767448, essv6007417, essv5458306, essv6281429, essv6055602, essv6198428, essv6217562, essv5439957, essv5848093, essv6587073, essv6069521, essv6049730, essv5856376, essv5519151, essv6509138, essv6338696, essv6023522, essv6365688, essv6105254, essv5568013, essv6081703, essv6578452, essv6098632, essv5777278, essv5396658, essv6454525, essv5752903, essv5659077, essv6247352, essv6399987, essv6010832, essv6456794, essv6241846, essv6083082, essv5637153, essv6037897, essv5902855, essv6506476, essv6038877, essv5466274, essv6537546, essv5742689, essv5470194, essv5948272, essv5712127, essv6063682, essv6489045, essv6285104, essv5766681, essv6391402, essv6371718, essv6529230, essv5770413, essv5501514, essv5802368, essv5743902, essv6354986, essv6268384, essv5542942, essv6542651, essv6555603, essv5645639, essv6336380, essv5608607, essv5858448, essv5866384, essv5556707, essv6476042, essv5903790, essv5485573, essv5634078, essv5672472, essv5581757, essv6515809, essv5493803, essv6173744, essv6375635, essv5990944, essv6461379, essv5453029, essv5531014, essv5803223, essv5787553, essv6480742, essv6000178, essv5804679, essv5658073, essv5742531, essv6218147, essv6421000, essv6154361, essv6109768, essv6484826, essv6095568, essv6484623, essv5611934, essv5655517, essv6209005, essv5634009, essv5790434, essv5613902, essv5977362, essv5617538, essv6254985, essv5921079, essv5637201, essv6361922, essv6482384, essv5902724, essv6366745, essv6258405, essv6553616, essv6012416, essv6374869

Samples

HG01441, NA11830, HG01173, HG01356, HG01462, HG00608, NA19664, HG01359, HG01389, HG01374, NA18486, HG01465, NA20294, NA19777, HG01456, NA19684, HG01461, HG01140, HG00337, HG00271, HG01250, NA19746, NA19396, NA19660, HG01350, HG01366, NA19762, HG01351, NA19678, HG01488, NA19723, NA18558, HG01492, HG01354, NA19771, HG01365, NA20287, NA19782, NA19681, NA20291, HG00590, NA19404, HG01134, HG01455, HG01069, NA19720, NA19651, HG01495, NA19719, NA19371, NA19731, HG01440, NA19722, HG01550, NA19789, HG01124, HG01353, HG00313, HG01136, NA19657, HG01360, HG01384, HG00328, NA19717, NA19663, HG00320, HG01498, NA19788, HG01149, HG00708, HG01390, NA19654, HG01073, NA19774, NA19655, NA18499, HG01383, NA19750, HG00140, NA18853, HG01497, NA19682, NA19675, NA18608, HG01148, NA19401, NA19729, NA18632, NA19652, NA18909, NA19747, NA19732, HG01253, NA19773, HG01357, HG01375, HG00473, NA19679, NA19428, HG01113, NA19786, HG01108, HG01489, HG01342, NA18501, NA19785, HG01491, NA19779, HG00329, NA19716, HG01254, NA19093, NA19770, NA19726, NA19780, HG01251, NA19661, HG01377, HG01378, NA19755, NA19758, HG01125, NA18624, HG01112, HG01437, NA19676

Known Genes

FBRSL1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2663688

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	126
Observed Complex	0
Frequency	n/a