Variant Details

Variant: esv2666748

Internal ID

9932853

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:115307451..115309757	hg38	UCSC Ensembl
Outer	chrX:115307080..115310127	hg38	UCSC Ensembl
Inner	chrX:114542016..114544322	hg19	UCSC Ensembl
Outer	chrX:114541645..114544692	hg19	UCSC Ensembl

Cytoband

Xq23

Allele length

Assembly	Allele length
hg38	3048
hg19	3048

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6012513, essv6402096, essv6081776, essv6054080, essv6597629, essv5825638, essv6489730, essv5815647, essv5467090, essv5660782, essv5517424, essv5482055, essv5783867, essv6590937, essv6314597, essv5451807, essv6084578, essv6370479, essv5471388, essv6592075, essv5619231, essv6429904, essv6116112, essv5527587, essv5792492, essv6051895, essv6047144, essv5636437, essv5652596, essv6009347, essv5489454, essv6509347, essv5972759, essv5867033, essv5506524, essv6396714, essv5932260, essv5807044, essv5784659, essv6302959, essv6468497, essv6024777, essv5703886, essv6136633, essv6514307, essv6161368, essv6524700, essv6322679, essv6494701, essv5664036, essv6297275, essv6554608, essv5863429, essv5736315, essv6541781, essv5728319, essv5629059, essv5713000, essv5694642, essv6023460, essv5535998, essv5479030, essv5552904, essv5858809, essv5920641, essv6009999, essv6170046, essv5572698, essv6106742, essv6308228, essv5909691, essv5778410, essv5617388, essv5976399, essv5769319, essv6286114, essv5959520

Samples

NA20588, NA20761, NA20529, NA20543, NA20766, NA20783, NA20514, NA20531, NA20816, NA20752, NA20532, NA20512, NA20805, NA20771, NA20806, NA20814, NA20537, NA20796, NA20798, NA20589, NA20586, NA20774, NA20795, NA20769, NA20513, NA20541, NA20759, NA20539, NA20518, NA20819, NA20775, NA20812, NA20811, NA20757, NA20533, NA20515, NA20755, NA20787, NA20524, NA20809, NA20521, NA20810, NA20760, NA20536, NA20506, NA20519, NA20770, NA20525, NA20581, NA20538, NA20542, NA20534, NA20765, NA20799, NA20773, NA20801, NA20815, NA20804, NA20520, NA20785, NA20790, NA20530, NA20527, NA20792, NA20778, NA20544, NA20516, NA20803, NA20797, NA20510, NA20807, NA20758, NA20826, NA20528, NA20754, NA20772, NA20509

Known Genes

LUZP4

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2666748

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	77
Observed Complex	0
Frequency	n/a