A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615378



Internal ID6655577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146602874..146605578hg38UCSC Ensembl
Innerchr7:146602874..146605578hg38UCSC Ensembl
Outerchr7:146602607..146605823hg38UCSC Ensembl
chr7:146299966..146302670hg19UCSC Ensembl
Innerchr7:146299966..146302670hg19UCSC Ensembl
Outerchr7:146299699..146302915hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382705
hg192705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997799, essv12997796, essv12997854, essv12997910, essv12997776, essv12997836, essv12997880, essv12997820, essv12997874, essv12997805, essv12997877, essv12997823, essv12997808, essv12997778, essv12997883, essv12997908, essv12997850, essv12997896, essv12997907, essv12997811, essv12997899, essv12997786, essv12997777, essv12997888, essv12997766, essv12997781, essv12997783, essv12997900, essv12997882, essv12997893, essv12997787, essv12997841, essv12997761, essv12997772, essv12997890, essv12997825, essv12997851, essv12997847, essv12997767, essv12997844, essv12997909, essv12997791, essv12997833, essv12997848, essv12997782, essv12997865, essv12997829, essv12997817, essv12997771, essv12997785, essv12997911, essv12997795, essv12997818, essv12997793, essv12997894, essv12997842, essv12997760, essv12997859, essv12997881, essv12997889, essv12997803, essv12997775, essv12997822, essv12997868, essv12997892, essv12997860, essv12997871, essv12997812, essv12997862, essv12997861, essv12997867, essv12997773, essv12997780, essv12997774, essv12997806, essv12997846, essv12997789, essv12997912, essv12997876, essv12997810, essv12997845, essv12997872, essv12997879, essv12997784, essv12997838, essv12997801, essv12997764, essv12997875, essv12997852, essv12997804, essv12997815, essv12997832, essv12997849, essv12997884, essv12997790, essv12997905, essv12997768, essv12997807, essv12997891, essv12997856, essv12997800, essv12997797, essv12997762, essv12997878, essv12997857, essv12997855, essv12997898, essv12997840, essv12997765, essv12997873, essv12997769, essv12997809, essv12997887, essv12997794, essv12997792, essv12997814, essv12997816, essv12997828, essv12997866, essv12997901, essv12997904, essv12997827, essv12997843, essv12997863, essv12997826, essv12997906, essv12997819, essv12997837, essv12997831, essv12997858, essv12997885, essv12997763, essv12997821, essv12997895, essv12997902, essv12997824, essv12997835, essv12997864, essv12997813, essv12997869, essv12997802, essv12997834, essv12997903, essv12997897, essv12997830, essv12997870, essv12997798, essv12997839, essv12997788, essv12997770, essv12997779, essv12997853, essv12997886
SamplesHG02580, HG02122, HG00864, HG00881, HG01459, HG03832, HG00537, HG03354, HG03698, NA20514, HG00304, NA19026, HG01603, HG00619, HG02184, HG02736, HG02025, HG00129, HG02164, HG01873, HG02086, HG00171, HG03112, HG01800, HG02601, HG01845, NA18603, HG02450, HG03301, NA19319, HG01031, HG03611, HG02048, HG03663, HG01174, HG00368, HG00173, HG03111, HG03746, NA20894, HG01507, HG00683, NA20897, HG01844, NA07051, HG03538, NA19678, HG03229, NA19701, HG03714, HG00319, HG04140, NA20521, NA20803, HG00188, NA18626, HG00290, HG01468, HG01311, NA12414, HG03846, HG04238, HG00321, HG02699, NA19059, HG01796, NA12282, HG00583, HG01248, NA19917, NA18622, HG01623, NA07357, HG01048, HG01583, NA12762, HG00728, HG01965, HG04194, HG03844, NA19429, HG02016, HG00419, HG03539, NA11894, HG00264, HG01668, HG04063, HG02380, NA20892, HG00982, NA19457, NA19086, HG01596, HG03722, NA18970, HG00133, HG02239, HG03869, HG00844, NA19377, HG02019, HG02127, NA20536, NA19375, HG00255, HG04158, HG00365, HG02922, HG03919, NA20822, HG01281, HG04239, HG00282, NA11892, HG01080, NA18878, HG03733, HG00534, HG00458, HG02084, HG02614, HG03228, NA20534, HG00443, NA19035, HG03745, HG04019, HG03913, HG02181, HG03172, HG00580, HG00118, HG02141, HG03905, NA18946, NA19717, HG02679, HG00367, NA19756, HG03802, NA18532, HG01374, NA20804, NA20806, HG03837, HG02574, NA19448, NA18881, HG02130, HG00126, HG03689, HG01870
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615378
Frequency
Sample Size2504
Observed Gain0
Observed Loss153
Observed Complex0
Frequencyn/a


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