A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595556



Internal ID6982874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23047344..23050621hg38UCSC Ensembl
Innerchr3:23047345..23050621hg38UCSC Ensembl
Outerchr3:23047344..23050622hg38UCSC Ensembl
chr3:23088835..23092112hg19UCSC Ensembl
Innerchr3:23088836..23092112hg19UCSC Ensembl
Outerchr3:23088835..23092113hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg383278
hg193278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10948833, essv10948884, essv10948829, essv10948845, essv10948870, essv10948880, essv10948848, essv10948872, essv10948878, essv10948831, essv10948868, essv10948875, essv10948836, essv10948835, essv10948873, essv10948832, essv10948855, essv10948867, essv10948839, essv10948881, essv10948877, essv10948856, essv10948857, essv10948850, essv10948866, essv10948882, essv10948844, essv10948853, essv10948825, essv10948859, essv10948852, essv10948864, essv10948837, essv10948858, essv10948874, essv10948860, essv10948885, essv10948841, essv10948862, essv10948847, essv10948876, essv10948863, essv10948846, essv10948871, essv10948842, essv10948879, essv10948865, essv10948854, essv10948828, essv10948849, essv10948830, essv10948838, essv10948843, essv10948883, essv10948826, essv10948827, essv10948840, essv10948861, essv10948834, essv10948869, essv10948851
SamplesHG01985, NA19397, NA19466, NA18508, NA19914, HG02836, HG02804, HG03190, NA18878, HG03086, HG02811, HG03099, HG01064, NA19307, NA18916, HG03342, HG03578, HG02111, HG03079, HG03209, HG03268, HG03045, NA19317, HG03058, NA20127, HG03114, HG03343, HG02570, NA19437, NA19707, NA18933, HG03547, HG01879, HG02953, NA19654, HG01102, HG03078, HG02884, HG03571, NA19452, HG02675, NA19436, NA19206, HG02807, HG03461, NA19149, HG03437, HG02546, HG02314, NA19439, HG02839, NA19102, HG03410, HG01883, HG02861, NA18488, NA19316, HG02805, HG01886, NA19153, NA19431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595556
Frequency
Sample Size2504
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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