Variant Details

Variant: esv3587598

Internal ID

6627899

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:154108469..154112184	hg38	UCSC Ensembl
Inner	chr1:154108469..154112184	hg38	UCSC Ensembl
Outer	chr1:154108103..154112606	hg38	UCSC Ensembl
	chr1:154080945..154084660	hg19	UCSC Ensembl
Inner	chr1:154080945..154084660	hg19	UCSC Ensembl
Outer	chr1:154080579..154085082	hg19	UCSC Ensembl

Cytoband

1q21.3

Allele length

Assembly	Allele length
hg38	3716
hg19	3716

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10151484, essv10151503, essv10151513, essv10151478, essv10151504, essv10151524, essv10151454, essv10151500, essv10151534, essv10151488, essv10151527, essv10151515, essv10151496, essv10151460, essv10151514, essv10151468, essv10151475, essv10151477, essv10151476, essv10151535, essv10151511, essv10151532, essv10151506, essv10151461, essv10151455, essv10151528, essv10151507, essv10151458, essv10151523, essv10151464, essv10151508, essv10151482, essv10151501, essv10151505, essv10151497, essv10151490, essv10151489, essv10151519, essv10151486, essv10151472, essv10151456, essv10151480, essv10151470, essv10151473, essv10151471, essv10151533, essv10151499, essv10151463, essv10151459, essv10151495, essv10151517, essv10151474, essv10151520, essv10151512, essv10151516, essv10151529, essv10151487, essv10151521, essv10151510, essv10151526, essv10151522, essv10151493, essv10151481, essv10151525, essv10151467, essv10151466, essv10151498, essv10151492, essv10151502, essv10151509, essv10151518, essv10151462, essv10151479, essv10151485, essv10151465, essv10151494, essv10151483, essv10151531, essv10151457, essv10151469, essv10151530, essv10151491

Samples

HG01985, HG03121, NA19204, NA18861, NA18508, NA19399, NA19914, NA19378, NA18507, HG03057, HG03130, HG03298, HG02476, NA19190, NA18870, HG03069, HG03095, HG03082, HG03464, HG03436, NA20317, NA19131, NA18916, NA19457, NA19681, HG03079, HG02981, HG02703, NA20278, NA18874, HG03268, NA19917, HG02461, HG03195, NA19026, HG03380, HG02946, HG03055, HG03394, NA19200, NA19027, HG02009, HG02943, NA18934, HG03511, NA19403, NA19347, NA18915, HG03159, HG02508, HG03124, NA19114, NA19042, NA18499, NA19113, NA18912, HG03446, NA19099, NA19338, NA19257, NA18858, NA20296, NA19017, NA19308, HG02330, NA19108, NA19149, NA19147, NA19454, HG00638, NA19324, HG03112, HG03442, HG03313, HG02938, NA19474, HG03063, HG03060, NA20289, HG03077, HG02947, HG03303

Known Genes

NUP210L

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3587598

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	82
Observed Complex	0
Frequency	n/a