Variant Details

Variant: esv3634528

Internal ID

7021331

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr14:52785748..52788377	hg38	UCSC Ensembl
Inner	chr14:52785750..52788376	hg38	UCSC Ensembl
Outer	chr14:52785747..52788379	hg38	UCSC Ensembl
	chr14:53252466..53255095	hg19	UCSC Ensembl
Inner	chr14:53252468..53255094	hg19	UCSC Ensembl
Outer	chr14:53252465..53255097	hg19	UCSC Ensembl

Cytoband

14q22.1

Allele length

Assembly	Allele length
hg38	2630
hg19	2630

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15014045, essv15014048, essv15014072, essv15014082, essv15014040, essv15014089, essv15014090, essv15014054, essv15014026, essv15014022, essv15014035, essv15014103, essv15014059, essv15014044, essv15014027, essv15014042, essv15014085, essv15014100, essv15014063, essv15014038, essv15014021, essv15014092, essv15014083, essv15014065, essv15014077, essv15014076, essv15014043, essv15014088, essv15014057, essv15014071, essv15014029, essv15014030, essv15014079, essv15014064, essv15014016, essv15014055, essv15014084, essv15014039, essv15014091, essv15014014, essv15014102, essv15014060, essv15014096, essv15014056, essv15014067, essv15014015, essv15014101, essv15014052, essv15014041, essv15014033, essv15014031, essv15014047, essv15014078, essv15014061, essv15014062, essv15014080, essv15014028, essv15014097, essv15014034, essv15014032, essv15014023, essv15014053, essv15014036, essv15014098, essv15014075, essv15014024, essv15014070, essv15014058, essv15014050, essv15014068, essv15014037, essv15014073, essv15014017, essv15014081, essv15014018, essv15014019, essv15014066, essv15014093, essv15014074, essv15014095, essv15014094, essv15014025, essv15014087, essv15014049, essv15014051, essv15014099, essv15014069, essv15014020, essv15014086, essv15014046

Samples

NA18998, HG00442, NA19058, HG00671, NA18980, NA18561, HG02122, NA18599, NA18979, HG00457, HG02078, HG02360, HG00729, NA18639, HG01802, HG02058, HG02356, NA18526, NA18969, NA18627, HG00717, NA19005, NA18940, HG02016, HG02069, NA18595, HG02140, HG02383, NA18982, NA18635, NA18567, NA18942, HG00610, HG02374, NA19088, NA21108, HG00537, HG00867, HG02512, HG02389, NA18748, HG02190, HG00530, HG00675, NA19007, NA18614, NA18544, NA18605, NA19006, NA19077, HG00657, HG00475, HG01845, NA18637, NA18579, NA18534, NA18981, HG00708, HG00864, NA18634, NA18593, HG01811, NA18974, HG01812, NA18952, NA18543, HG01878, NA19090, NA19083, HG02019, HG00620, HG02133, NA19078, NA18971, HG00446, NA18631, HG02367, NA19060, NA18609, HG01600, NA19080, NA18624, HG01869, NA18740, HG02406, NA19074, HG00978, HG02060, HG00581, NA18620

Known Genes

GNPNAT1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3634528

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	90
Observed Complex	0
Frequency	n/a