A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647528



Internal ID6687583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29283185..29284035hg38UCSC Ensembl
Innerchr22:29283335..29283885hg38UCSC Ensembl
Outerchr22:29283035..29284185hg38UCSC Ensembl
chr22:29679174..29680024hg19UCSC Ensembl
Innerchr22:29679324..29679874hg19UCSC Ensembl
Outerchr22:29679024..29680174hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16398733, essv16398656, essv16398673, essv16398690, essv16398711, essv16398675, essv16398731, essv16398737, essv16398667, essv16398743, essv16398683, essv16398765, essv16398689, essv16398758, essv16398671, essv16398721, essv16398729, essv16398760, essv16398713, essv16398749, essv16398768, essv16398717, essv16398725, essv16398736, essv16398756, essv16398719, essv16398679, essv16398649, essv16398744, essv16398698, essv16398761, essv16398654, essv16398668, essv16398757, essv16398770, essv16398727, essv16398753, essv16398726, essv16398693, essv16398747, essv16398707, essv16398663, essv16398692, essv16398660, essv16398723, essv16398762, essv16398704, essv16398676, essv16398699, essv16398706, essv16398691, essv16398702, essv16398681, essv16398712, essv16398750, essv16398695, essv16398716, essv16398687, essv16398720, essv16398665, essv16398701, essv16398669, essv16398740, essv16398688, essv16398648, essv16398769, essv16398678, essv16398657, essv16398686, essv16398697, essv16398709, essv16398661, essv16398759, essv16398651, essv16398650, essv16398755, essv16398739, essv16398708, essv16398724, essv16398754, essv16398763, essv16398677, essv16398694, essv16398734, essv16398684, essv16398751, essv16398741, essv16398738, essv16398685, essv16398718, essv16398722, essv16398752, essv16398653, essv16398714, essv16398767, essv16398666, essv16398662, essv16398705, essv16398652, essv16398715, essv16398659, essv16398745, essv16398735, essv16398732, essv16398672, essv16398728, essv16398696, essv16398658, essv16398730, essv16398670, essv16398764, essv16398746, essv16398742, essv16398710, essv16398703, essv16398748, essv16398674, essv16398664, essv16398682, essv16398680, essv16398766, essv16398700, essv16398655
SamplesHG02879, HG02890, HG02808, NA19312, HG03160, HG03058, HG03121, NA19030, HG00734, HG02882, HG03354, HG03567, HG02330, HG03382, NA18871, NA19437, HG03342, NA19114, HG02983, HG03410, HG03055, HG03129, HG01885, HG03196, HG03247, NA19455, HG02450, HG03301, NA19430, HG03057, NA18516, HG02014, HG02952, HG01956, HG03212, NA18517, HG03571, HG03311, HG03432, HG02497, HG03099, NA19320, HG02760, HG03548, HG03394, NA18505, HG03039, HG02805, NA19147, HG03457, HG03049, NA18868, HG02585, HG03162, HG02588, HG03470, HG03575, HG02009, NA19917, HG02716, HG01965, HG03130, NA18916, HG02595, HG03114, NA19316, NA19324, NA19190, HG02941, NA19247, HG02814, HG03190, NA19129, HG03391, NA19374, HG02562, HG03455, NA18510, HG02439, NA19901, HG01170, HG03097, NA18504, NA19175, NA18858, HG03072, HG03157, NA19159, HG02536, HG02582, HG02624, HG03385, NA19235, HG02947, HG03224, NA19201, HG03045, HG03246, HG03061, HG02953, HG03267, HG03556, HG03123, HG03476, HG02589, NA18917, HG02464, HG03369, HG02476, HG03270, NA19095, HG03557, HG03271, HG02798, HG01890, HG02095, HG02820, HG03460, HG03095, NA19922, NA19439, HG02282, HG02610
Known GenesEWSR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647528
Frequency
Sample Size2504
Observed Gain0
Observed Loss123
Observed Complex0
Frequencyn/a


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