Variant Details

Variant: esv3590396

Internal ID

6977725

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:36593172..36594422	hg38	UCSC Ensembl
Inner	chr2:36593184..36594411	hg38	UCSC Ensembl
Outer	chr2:36593161..36594434	hg38	UCSC Ensembl
	chr2:36820315..36821565	hg19	UCSC Ensembl
Inner	chr2:36820327..36821554	hg19	UCSC Ensembl
Outer	chr2:36820304..36821577	hg19	UCSC Ensembl

Cytoband

2p22.2

Allele length

Assembly	Allele length
hg38	1251
hg19	1251

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10466386, essv10466381, essv10466398, essv10466429, essv10466424, essv10466409, essv10466392, essv10466389, essv10466445, essv10466447, essv10466443, essv10466422, essv10466394, essv10466416, essv10466396, essv10466383, essv10466377, essv10466452, essv10466380, essv10466441, essv10466368, essv10466450, essv10466391, essv10466426, essv10466440, essv10466367, essv10466436, essv10466413, essv10466382, essv10466407, essv10466400, essv10466432, essv10466366, essv10466434, essv10466414, essv10466373, essv10466453, essv10466363, essv10466425, essv10466438, essv10466430, essv10466378, essv10466374, essv10466370, essv10466404, essv10466402, essv10466448, essv10466415, essv10466375, essv10466439, essv10466427, essv10466365, essv10466410, essv10466390, essv10466364, essv10466405, essv10466418, essv10466428, essv10466399, essv10466387, essv10466408, essv10466395, essv10466442, essv10466431, essv10466423, essv10466411, essv10466412, essv10466420, essv10466401, essv10466403, essv10466406, essv10466379, essv10466376, essv10466372, essv10466371, essv10466369, essv10466419, essv10466435, essv10466384, essv10466385, essv10466449, essv10466421, essv10466417, essv10466444, essv10466393, essv10466433, essv10466451, essv10466446, essv10466388, essv10466437, essv10466397

Samples

NA18622, HG00581, NA18965, NA18620, NA18997, HG00403, HG00442, HG01795, HG02072, NA18621, NA18592, HG01031, HG02026, NA18980, NA18979, HG02061, NA18639, HG01806, NA18596, NA18962, HG03950, HG00622, NA19089, NA19005, NA18550, HG02016, HG02069, HG00448, HG03937, HG00634, NA18960, HG02130, HG02085, HG00610, NA19062, NA18574, NA18642, NA18571, NA18611, NA18970, HG01849, HG02073, HG01844, NA18985, HG03832, HG02164, HG01851, HG00675, NA18605, NA18613, HG00596, HG02075, HG00653, NA18956, HG00583, NA18637, HG03805, NA18630, NA18548, HG02364, HG01870, HG00684, NA18532, HG04017, HG00525, NA18553, HG02081, HG01865, HG01811, NA19003, NA18543, NA18628, NA19072, HG02064, HG00623, NA18992, HG00631, NA18615, HG02398, HG00614, HG02128, NA18971, NA18631, HG00409, HG00698, HG01872, HG02186, HG00595, HG00628, NA18623, NA19063

Known Genes

FEZ2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3590396

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	91
Observed Complex	0
Frequency	n/a