A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640839



Internal ID7027613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55386020..55388057hg38UCSC Ensembl
Innerchr17:55386021..55388057hg38UCSC Ensembl
Outerchr17:55386020..55388058hg38UCSC Ensembl
chr17:53463381..53465418hg19UCSC Ensembl
Innerchr17:53463382..53465418hg19UCSC Ensembl
Outerchr17:53463381..53465419hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382038
hg192038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15702852, essv15702850, essv15702830, essv15702831, essv15702881, essv15702883, essv15702793, essv15702759, essv15702842, essv15702772, essv15702841, essv15702861, essv15702747, essv15702802, essv15702735, essv15702725, essv15702824, essv15702834, essv15702854, essv15702728, essv15702875, essv15702865, essv15702815, essv15702882, essv15702855, essv15702731, essv15702871, essv15702749, essv15702727, essv15702809, essv15702781, essv15702787, essv15702823, essv15702817, essv15702773, essv15702843, essv15702745, essv15702821, essv15702789, essv15702766, essv15702722, essv15702723, essv15702878, essv15702873, essv15702769, essv15702755, essv15702782, essv15702740, essv15702764, essv15702736, essv15702744, essv15702717, essv15702716, essv15702800, essv15702794, essv15702795, essv15702792, essv15702726, essv15702798, essv15702746, essv15702885, essv15702724, essv15702827, essv15702738, essv15702737, essv15702796, essv15702761, essv15702753, essv15702836, essv15702822, essv15702806, essv15702768, essv15702732, essv15702757, essv15702833, essv15702791, essv15702771, essv15702758, essv15702777, essv15702810, essv15702859, essv15702846, essv15702797, essv15702858, essv15702767, essv15702730, essv15702729, essv15702863, essv15702847, essv15702790, essv15702866, essv15702849, essv15702770, essv15702765, essv15702718, essv15702835, essv15702786, essv15702880, essv15702853, essv15702799, essv15702785, essv15702752, essv15702868, essv15702788, essv15702818, essv15702778, essv15702812, essv15702739, essv15702775, essv15702720, essv15702741, essv15702877, essv15702870, essv15702820, essv15702783, essv15702869, essv15702811, essv15702886, essv15702807, essv15702763, essv15702803, essv15702839, essv15702774, essv15702860, essv15702721, essv15702876, essv15702814, essv15702760, essv15702801, essv15702734, essv15702862, essv15702856, essv15702884, essv15702838, essv15702826, essv15702813, essv15702751, essv15702743, essv15702874, essv15702879, essv15702845, essv15702808, essv15702756, essv15702857, essv15702828, essv15702776, essv15702829, essv15702851, essv15702840, essv15702825, essv15702819, essv15702872, essv15702754, essv15702816, essv15702719, essv15702832, essv15702748, essv15702780, essv15702867, essv15702784, essv15702762, essv15702805, essv15702837, essv15702742, essv15702864, essv15702733, essv15702848, essv15702844, essv15702779, essv15702750, essv15702804
SamplesHG01985, NA18502, NA19700, HG02610, HG03484, HG03121, HG02583, NA20766, NA18861, HG01885, HG03237, NA19332, HG02702, HG03247, HG01188, HG03241, HG02419, HG02836, HG03130, NA19092, HG03298, HG01486, NA18878, HG03100, HG03193, HG03172, HG02888, NA12750, HG02769, NA19107, HG00641, HG03464, NA19171, HG03099, HG03135, NA19764, HG02325, NA19916, HG03673, NA20768, NA19457, NA12287, HG03479, NA19384, NA20291, HG02922, HG01242, HG02143, HG00120, NA20278, HG00262, HG03212, NA20340, NA19372, HG03045, NA19317, HG02471, HG03352, NA19036, HG03225, HG00159, NA19239, HG01771, HG01133, HG03583, NA20533, HG03114, HG00323, HG01967, NA19200, HG03270, HG02479, HG02943, HG03120, HG02570, HG02439, NA19908, NA19247, HG03054, HG03132, HG01669, HG02582, NA19984, HG01684, NA19184, HG02449, NA19455, NA19043, HG02108, HG01088, HG02144, HG03428, HG02953, HG02307, NA18871, HG02014, HG01889, HG02555, HG03311, HG03123, HG02429, NA20299, HG03382, HG02577, HG02884, HG01101, NA18853, HG01497, HG02666, HG02256, HG01890, NA19225, HG03991, HG02586, NA19395, HG02594, HG03694, HG01204, HG03064, NA19401, HG00155, NA12716, HG02667, NA19390, HG03240, HG03367, NA12775, HG01551, NA19435, NA19037, HG01958, HG02611, HG02982, HG02941, NA20504, HG03304, NA19467, HG02814, HG03108, NA19323, NA19328, NA18501, NA20348, NA19248, HG02974, NA20582, NA19472, HG03049, HG00342, HG03279, HG01089, NA20289, NA19102, HG02679, HG00234, HG00131, NA18876, NA19116, NA20826, HG03401, NA18505, NA19146, NA19312, NA20763, NA18522, HG01112, HG03129, NA19429, NA19214, NA19153, NA12776
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640839
Frequency
Sample Size2504
Observed Gain0
Observed Loss171
Observed Complex0
Frequencyn/a


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