Variant Details

Variant: esv2670197

Internal ID

4714531

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:14052323..14052818	hg19	UCSC Ensembl

Cytoband

12p13.1

Allele length

Assembly	Allele length
hg19	n/a

Variant Type

CNV Deletion

Copy Number

Allele State

Allele Origin

Probe Count

Merged Status

Merged Variants

Supporting Variants

essv6404498, essv6360679, essv5605114, essv6384007, essv5726330, essv6201511, essv5601408, essv5418896, essv5558693, essv5686625, essv6144461, essv5452175, essv5499776, essv5693327, essv6110398, essv5605334, essv5722377, essv6170364, essv5976460, essv5852340, essv5773135, essv5410732, essv5945799, essv5452270, essv5992910, essv5591758, essv6263832, essv6303407, essv6249010, essv5532050, essv6455617, essv6061185, essv5966399, essv5772159, essv6195196, essv5397500, essv5917238, essv5976261, essv6232658, essv6020904, essv5464401, essv6010470, essv6417075, essv6252812, essv6319792, essv5733446, essv6221359, essv5502039, essv6106246, essv6502911, essv6395157, essv5619346, essv5869999, essv5543614, essv6212125, essv5999694, essv6006123, essv5769256, essv5418007, essv6452606, essv5956582, essv5777773, essv6528288, essv6112396, essv5761382, essv6106953, essv5761831, essv5918394, essv5549852, essv5476711, essv6568733, essv5873884, essv6127864, essv6388567, essv6475924, essv6491427, essv6289082, essv5882085, essv6431900, essv5797958, essv5741062, essv6461898, essv5688975, essv5481814, essv5797601, essv5469722, essv6025536, essv6097703, essv6469482, essv5410530, essv6020947, essv6084686, essv6543904, essv6574820, essv5661556, essv6288495, essv6276304, essv6392102, essv6470167, essv5510219, essv6573540, essv6008290, essv5798452, essv6035237, essv6494779, essv5888370, essv5553254, essv6037161, essv6595822, essv5990006, essv5673373, essv5848981, essv6193910, essv5438294, essv6143281, essv6308499, essv6561127, essv5452244, essv6462467, essv6383154, essv5567393, essv6207067, essv5641110, essv5850044, essv6267032, essv5801418, essv5926451, essv6089649, essv5480484, essv5870607, essv6001833, essv5492006, essv6545047, essv6153004, essv5868220, essv5994937, essv5403011, essv6498568, essv5917711, essv5927912, essv6072348, essv6390058, essv6442094, essv6265309, essv5965667, essv5847439, essv6467907, essv5685132, essv6590634, essv6405470, essv5956447, essv5474995, essv5710544, essv6095315, essv5662847, essv6269973, essv5676742, essv6431439, essv6120287, essv5614141, essv6282342, essv6541141, essv5702907, essv5481828, essv6156742, essv6112470, essv5991866, essv6306319, essv6080672

Samples

HG01357, HG00380, NA11881, NA12827, NA12154, NA12718, NA12043, NA12489, HG01359, NA12249, HG00318, HG01440, NA07347, NA12750, NA20787, NA19712, HG00257, NA12748, NA20771, NA20522, NA20527, NA20278, HG01250, HG01052, HG00100, NA07056, HG01342, NA20516, HG00369, HG00731, HG00131, NA20796, NA20531, HG00160, NA11918, HG00310, NA06989, NA10847, NA20294, NA20802, NA11931, HG01082, NA20816, HG01174, HG00173, HG00326, HG00148, NA20786, HG00270, HG01350, HG00139, HG00190, HG00122, HG00106, NA12058, NA20539, NA20588, HG01188, HG00111, NA19685, NA07051, NA19648, HG00280, HG01134, NA19682, NA11893, HG00331, HG00319, HG00737, HG00253, HG01551, HG00188, HG00353, HG00247, HG00269, NA20770, HG00115, HG00321, HG00339, HG00158, NA20505, NA12763, NA12843, HG00346, HG00250, NA12383, NA11994, NA19660, HG00140, NA12155, NA20504, HG01048, HG01061, HG00231, HG01047, NA20754, HG01124, HG00141, HG00330, NA07048, NA12761, HG00149, NA11843, NA12829, NA12400, HG00264, HG00174, HG00637, HG00254, HG00276, HG00284, HG01187, NA12830, HG00237, HG00343, NA12751, HG00373, NA19725, HG00159, HG00267, HG01437, HG00124, NA07346, NA12046, HG00108, NA12716, HG01465, NA19771, HG00233, NA12892, NA20536, NA20512, HG00732, HG00239, NA19664, HG00265, HG00232, HG01069, NA20818, HG00116, NA20774, HG01080, HG00120, NA12891, NA12890, NA20581, NA19723, HG01334, NA12889, HG00118, NA19818, HG01390, NA12878, NA19452, NA20507, NA11830, NA12003, NA19770, NA12399, HG01251, NA11829, HG00275, HG01374, HG00473, HG01377, NA20502, HG01067, HG00327, HG01198

Known Genes

GRIN2B

Method

Analysis

Platform

Comments

High quality site

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2670197

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	169
Observed Complex	0
Frequency	n/a