A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633624



Internal ID6673745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113842169..113845689hg38UCSC Ensembl
chr13:114545142..114548662hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383521
hg193521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14909716, essv14909722, essv14909827, essv14909788, essv14909812, essv14909675, essv14909804, essv14909756, essv14909749, essv14909773, essv14909733, essv14909813, essv14909698, essv14909697, essv14909793, essv14909792, essv14909761, essv14909721, essv14909840, essv14909696, essv14909703, essv14909774, essv14909785, essv14909692, essv14909750, essv14909830, essv14909828, essv14909661, essv14909834, essv14909711, essv14909683, essv14909632, essv14909758, essv14909654, essv14909657, essv14909837, essv14909776, essv14909630, essv14909752, essv14909682, essv14909653, essv14909676, essv14909767, essv14909836, essv14909810, essv14909764, essv14909805, essv14909651, essv14909777, essv14909794, essv14909644, essv14909832, essv14909694, essv14909826, essv14909650, essv14909636, essv14909719, essv14909656, essv14909751, essv14909818, essv14909659, essv14909730, essv14909660, essv14909787, essv14909628, essv14909642, essv14909747, essv14909655, essv14909795, essv14909757, essv14909763, essv14909833, essv14909646, essv14909666, essv14909710, essv14909782, essv14909634, essv14909741, essv14909647, essv14909718, essv14909798, essv14909800, essv14909670, essv14909762, essv14909769, essv14909713, essv14909816, essv14909738, essv14909799, essv14909766, essv14909820, essv14909700, essv14909731, essv14909825, essv14909786, essv14909684, essv14909629, essv14909734, essv14909715, essv14909831, essv14909817, essv14909811, essv14909640, essv14909689, essv14909726, essv14909819, essv14909783, essv14909643, essv14909806, essv14909705, essv14909753, essv14909687, essv14909778, essv14909791, essv14909678, essv14909772, essv14909801, essv14909723, essv14909658, essv14909649, essv14909739, essv14909824, essv14909744, essv14909742, essv14909809, essv14909662, essv14909797, essv14909748, essv14909768, essv14909784, essv14909796, essv14909802, essv14909691, essv14909645, essv14909631, essv14909709, essv14909664, essv14909695, essv14909652, essv14909674, essv14909686, essv14909707, essv14909760, essv14909693, essv14909771, essv14909680, essv14909679, essv14909735, essv14909770, essv14909639, essv14909717, essv14909668, essv14909701, essv14909677, essv14909781, essv14909736, essv14909790, essv14909815, essv14909823, essv14909637, essv14909641, essv14909665, essv14909712, essv14909829, essv14909704, essv14909780, essv14909822, essv14909685, essv14909765, essv14909740, essv14909663, essv14909835, essv14909672, essv14909720, essv14909633, essv14909746, essv14909807, essv14909673, essv14909743, essv14909839, essv14909727, essv14909667, essv14909681, essv14909638, essv14909724, essv14909779, essv14909754, essv14909814, essv14909714, essv14909699, essv14909729, essv14909688, essv14909669, essv14909702, essv14909838, essv14909728, essv14909755, essv14909789, essv14909737, essv14909708, essv14909635, essv14909725, essv14909775, essv14909803, essv14909706, essv14909745, essv14909690, essv14909671, essv14909759, essv14909808, essv14909648, essv14909821, essv14909732
SamplesHG02715, HG03136, HG02666, HG03370, HG03135, HG02317, NA18870, NA19248, HG03121, NA19152, NA19445, HG02882, HG03354, NA20351, NA19712, HG01241, NA19026, NA19904, NA21113, NA18871, NA19404, HG03084, HG01083, HG00274, HG02983, NA19093, HG02549, NA19401, HG02759, NA19149, NA19023, NA18511, HG02006, NA20294, HG03313, HG02979, NA19430, HG03057, HG02974, NA19923, HG02014, HG03419, NA19451, HG02722, HG00375, HG02884, NA20342, HG02944, NA20778, HG03111, HG01286, HG02977, NA19210, NA18507, NA20539, HG02660, HG02322, HG01577, HG03538, NA19257, HG03485, HG02323, HG03380, NA18488, NA19474, HG03109, NA18505, NA19467, NA19147, NA19761, NA19037, NA19438, HG02973, NA19143, HG02870, HG02982, NA20320, HG01254, HG02420, NA19463, NA19383, NA18934, NA18508, NA19314, NA19984, HG02634, NA19323, HG01375, NA19390, NA19309, HG00130, HG02568, NA19107, HG03442, HG03436, HG03439, NA19096, HG02643, HG02667, NA19351, NA19440, HG03052, HG03464, HG03520, HG03130, NA19256, HG01879, HG03027, HG00637, HG03079, HG02756, HG02941, NA19247, NA19360, HG00267, HG03085, HG02325, HG03190, HG02537, HG03391, NA19375, NA20126, HG01989, NA18923, NA19027, HG02922, HG02337, HG03472, HG02439, HG02573, HG02623, HG02501, HG02611, NA18504, HG03096, HG03366, HG03518, NA19347, HG02511, HG02771, NA18878, NA19332, HG03072, HG02852, NA19707, HG02571, NA18910, HG02479, HG03577, NA19318, HG02881, HG03175, HG03028, HG03108, HG02484, HG03224, HG02819, HG02635, HG02923, NA19391, NA19201, NA18915, HG03045, HG03267, HG03556, NA19431, HG02628, NA20318, NA19434, HG02144, NA19446, NA19475, HG03123, NA19452, HG03476, HG03240, HG00281, HG02702, HG02678, NA19160, HG02464, HG03607, NA18499, HG03139, HG02476, NA19198, NA19916, HG01108, HG03270, HG02721, NA19130, NA19346, HG03557, HG00324, HG03271, NA19204, NA19113, HG02620, HG03515, NA19473, HG02051, NA19448, HG01890, NA18881, NA19385, HG00278, NA19456, HG02820, HG03460, NA19121, NA19466, NA19439, HG02282
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633624
Frequency
Sample Size2504
Observed Gain0
Observed Loss213
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer