Variant Details

Variant: esv2675618

Internal ID

9595037

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:177396406..177396568	hg38	UCSC Ensembl
	chr5:176823407..176823569	hg19	UCSC Ensembl

Cytoband

5q35.3

Allele length

Assembly	Allele length
hg38	163
hg19	163

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6425229, essv5958559, essv5634037, essv6167710, essv6304163, essv5566032, essv6331941, essv5678282, essv5682744, essv6084565, essv5700300, essv5977598, essv5706364, essv6358180, essv6008138, essv6280305, essv6090680, essv5615863, essv6461405, essv5682071, essv6424028, essv5935009, essv6484376, essv6388833, essv5834328, essv6148061, essv5549787, essv5774447, essv5865343, essv6317810, essv6111915, essv6094868, essv5836149, essv5932506, essv6260269, essv5580171, essv5962010, essv5939880, essv5624865, essv5777228, essv5765533, essv5925560, essv6403820, essv6559437, essv5575970, essv5406932, essv5763152, essv5548090, essv5941452, essv5959358, essv6292222, essv5706291, essv5625280, essv6386264, essv5561891, essv6553451, essv5664965, essv6330593, essv5551503, essv5463880, essv5841734, essv5982106, essv6179586, essv5434895, essv6428981, essv5900944, essv5506629, essv6144259, essv5851761, essv6246646, essv6083132, essv5605432, essv5679481, essv6503350, essv6578981, essv5485028, essv5653799, essv6229057, essv6421593, essv5514087, essv6579334, essv6341878, essv6403763, essv5844738, essv6399465, essv6269048, essv5790176, essv5486343, essv5668199, essv5497927, essv6087839, essv5555786, essv6124533, essv6478276, essv6494300, essv6179395, essv6461722, essv6571295, essv6136537, essv6064093, essv6240916, essv6593923, essv6320011, essv6288376, essv6072810, essv6029829, essv5696308, essv5617753, essv6554743, essv6461652, essv5590621, essv5992154, essv5666007, essv5863837, essv6055932, essv6593722, essv6104560, essv6014354, essv6493010, essv5802277, essv6210528, essv6437171, essv6161929, essv6567296, essv6136344, essv5930746, essv5932122, essv6201086, essv5681689, essv6412235, essv6215335, essv5428278, essv5975466, essv5860353, essv6324317, essv5524486, essv5971933, essv5495372, essv5467474, essv5768908, essv6132812, essv5905002, essv6411165, essv5792902, essv5490320, essv6593676, essv6313099, essv5737988, essv5749749, essv5623718, essv5565989, essv5488281, essv5939978, essv5464760, essv5845482, essv5659711, essv5458546, essv5998945, essv6046225, essv6224515

Samples

HG00323, HG01357, HG01441, NA18621, HG00309, HG00313, HG00537, HG01518, HG00252, HG00318, NA18605, HG00536, HG00607, NA18595, HG00619, HG01250, NA18534, NA20503, HG00344, HG00418, HG01052, NA18561, NA19081, HG00328, HG01055, NA07056, NA20516, HG01173, NA11920, HG01083, NA18612, HG00274, HG00186, HG01098, HG01492, HG01082, HG00428, HG00475, HG00375, HG00542, NA18608, HG00148, NA18542, HG01188, HG00334, HG00581, HG00187, HG00280, HG00557, HG01101, HG00331, HG00253, NA18596, HG00269, HG01133, HG00342, HG00592, HG00543, HG00154, HG01107, HG01550, HG00158, NA20505, NA11919, NA12763, NA18624, NA19076, NA12282, HG01375, HG00421, NA18566, NA18635, HG00140, NA18622, HG00180, HG00259, NA18563, NA18623, HG01061, NA18636, HG01124, HG00330, NA18638, HG00338, NA18609, NA20765, HG00419, HG00125, HG01113, HG01136, HG00254, NA19663, HG00237, NA19324, NA12006, HG00267, HG00124, NA07346, NA18537, NA18620, NA18572, HG00268, HG01066, NA20760, HG00325, HG00185, HG00263, HG00260, HG01073, NA18977, NA19664, HG00501, HG01069, HG01356, HG01080, HG01351, HG00513, HG00524, HG01494, NA19720, HG00512, HG01070, HG00246, NA12283, NA19789, NA18940, NA10851, NA18582, HG00590, HG01334, HG00650, NA20518, NA12889, HG00580, NA18544, HG00448, HG00608, NA18577, HG01390, HG00530, NA18548, NA11830, HG00281, NA12842, HG00142, NA18571, HG00708, HG01108, NA18610, NA20792, HG00275, NA18532, HG00442, HG01374, HG00473, HG00336, HG00476, HG00278, HG00136, HG01354

Known Genes

SLC34A1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2675618

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	160
Observed Complex	0
Frequency	n/a