A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592463



Internal ID6979790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131136153..131137228hg38UCSC Ensembl
Innerchr2:131136153..131137228hg38UCSC Ensembl
Outerchr2:131135794..131137552hg38UCSC Ensembl
chr2:131893726..131894801hg19UCSC Ensembl
Innerchr2:131893726..131894801hg19UCSC Ensembl
Outerchr2:131893367..131895125hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10673807, essv10673845, essv10673821, essv10673814, essv10673849, essv10673810, essv10673798, essv10673817, essv10673827, essv10673796, essv10673800, essv10673823, essv10673859, essv10673853, essv10673806, essv10673834, essv10673858, essv10673843, essv10673828, essv10673857, essv10673830, essv10673801, essv10673797, essv10673826, essv10673832, essv10673820, essv10673855, essv10673844, essv10673815, essv10673846, essv10673835, essv10673847, essv10673838, essv10673813, essv10673861, essv10673840, essv10673833, essv10673825, essv10673803, essv10673854, essv10673795, essv10673809, essv10673805, essv10673850, essv10673808, essv10673829, essv10673822, essv10673848, essv10673811, essv10673842, essv10673824, essv10673831, essv10673852, essv10673812, essv10673851, essv10673816, essv10673841, essv10673802, essv10673818, essv10673860, essv10673837, essv10673794, essv10673839, essv10673819, essv10673836, essv10673856, essv10673799, essv10673804
SamplesHG03096, HG03773, NA19028, HG02973, NA21099, HG02433, HG03241, NA20321, HG02600, HG03836, HG02895, NA19374, HG03770, NA20320, NA18923, HG02860, NA19197, HG02054, NA19138, HG03479, HG03762, HG02981, HG03793, NA19041, HG03826, HG03520, HG02634, NA19372, HG03195, NA19239, NA18908, HG02882, HG01605, NA19027, HG03169, HG02009, NA19707, HG03511, HG01247, HG02887, HG03823, HG02429, HG03660, HG03451, HG03969, HG03391, HG04176, HG02813, HG02613, HG02282, HG01190, NA19321, HG01915, HG04080, HG03642, NA20849, HG03916, HG02768, HG03077, NA19030, NA18522, HG04153, HG02343, NA19429, HG03166, NA19431, HG03886, HG03271
Known GenesPLEKHB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592463
Frequency
Sample Size2504
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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