Variant Details

Variant: esv3647528

Internal ID

6687583

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:29283185..29284035	hg38	UCSC Ensembl
Inner	chr22:29283335..29283885	hg38	UCSC Ensembl
Outer	chr22:29283035..29284185	hg38	UCSC Ensembl
	chr22:29679174..29680024	hg19	UCSC Ensembl
Inner	chr22:29679324..29679874	hg19	UCSC Ensembl
Outer	chr22:29679024..29680174	hg19	UCSC Ensembl

Cytoband

22q12.2

Allele length

Assembly	Allele length
hg38	851
hg19	851

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv16398673, essv16398765, essv16398705, essv16398716, essv16398668, essv16398681, essv16398767, essv16398664, essv16398754, essv16398756, essv16398737, essv16398695, essv16398745, essv16398676, essv16398663, essv16398694, essv16398741, essv16398769, essv16398770, essv16398760, essv16398675, essv16398706, essv16398733, essv16398687, essv16398718, essv16398710, essv16398717, essv16398659, essv16398648, essv16398714, essv16398660, essv16398686, essv16398732, essv16398709, essv16398731, essv16398651, essv16398693, essv16398669, essv16398720, essv16398691, essv16398688, essv16398684, essv16398743, essv16398708, essv16398666, essv16398656, essv16398682, essv16398742, essv16398719, essv16398698, essv16398730, essv16398679, essv16398696, essv16398690, essv16398748, essv16398692, essv16398680, essv16398723, essv16398759, essv16398661, essv16398697, essv16398652, essv16398655, essv16398762, essv16398721, essv16398671, essv16398713, essv16398757, essv16398657, essv16398685, essv16398677, essv16398739, essv16398670, essv16398667, essv16398700, essv16398725, essv16398752, essv16398683, essv16398747, essv16398699, essv16398735, essv16398764, essv16398724, essv16398753, essv16398763, essv16398704, essv16398726, essv16398728, essv16398736, essv16398703, essv16398674, essv16398653, essv16398744, essv16398761, essv16398701, essv16398650, essv16398722, essv16398672, essv16398712, essv16398711, essv16398707, essv16398727, essv16398654, essv16398755, essv16398734, essv16398678, essv16398658, essv16398751, essv16398662, essv16398750, essv16398758, essv16398649, essv16398665, essv16398729, essv16398738, essv16398689, essv16398749, essv16398746, essv16398715, essv16398768, essv16398702, essv16398766, essv16398740

Samples

HG02890, HG02610, HG03121, HG01965, HG03548, HG01885, HG03247, HG03057, HG02798, NA18917, HG03130, HG02476, HG03455, HG03190, HG02624, NA18504, HG02589, HG02536, NA19190, NA18510, HG03095, NA19374, NA19201, HG03385, HG03099, HG02952, HG02595, NA18916, HG03342, HG03246, HG03224, NA19922, HG02562, HG03460, HG03556, HG01170, NA18868, NA19917, HG03212, HG03045, NA19235, HG02588, NA19159, NA19901, HG03267, HG03058, HG03055, HG03394, HG03114, HG02882, HG03369, HG03270, HG02879, HG02716, HG02009, HG02820, HG02439, NA19247, NA19437, HG03160, HG03061, NA19175, HG02582, NA19455, NA18516, HG03457, HG02450, HG02953, HG03575, NA18871, HG02014, HG02497, HG03311, HG03123, HG03301, NA19114, HG03382, HG03476, NA19320, HG03571, HG03391, HG02585, HG01890, HG03354, NA19095, NA18858, HG01956, HG03567, HG02330, HG02282, NA19147, NA18517, HG02983, HG00734, NA19439, HG02941, NA19324, HG02464, HG03557, HG02814, HG03432, HG03039, HG02095, HG03157, HG03097, HG03049, HG03410, HG03470, NA19030, HG03162, HG02947, NA19430, NA18505, NA19129, NA19316, NA19312, HG03072, HG02805, HG02808, HG03129, HG03271, HG03196, HG02760

Known Genes

EWSR1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3647528

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	123
Observed Complex	0
Frequency	n/a