A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586282



Internal ID6973803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65380552..65389914hg38UCSC Ensembl
chr1:65846235..65855597hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg389363
hg199363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9956828, essv9956823, essv9956849, essv9956838, essv9956832, essv9956820, essv9956847, essv9956844, essv9956817, essv9956831, essv9956816, essv9956825, essv9956822, essv9956841, essv9956836, essv9956834, essv9956848, essv9956843, essv9956839, essv9956826, essv9956850, essv9956835, essv9956814, essv9956821, essv9956824, essv9956840, essv9956830, essv9956833, essv9956818, essv9956827, essv9956845, essv9956829, essv9956837, essv9956815, essv9956842, essv9956846, essv9956819
SamplesNA19700, HG03163, HG02804, HG03521, HG03280, HG03295, HG03515, HG03297, HG03139, NA18870, HG03074, HG03436, NA19201, HG03452, NA19916, NA18520, HG02545, NA18867, HG02442, HG03363, NA19236, HG01092, HG01390, NA18879, HG03476, NA19031, HG02896, HG01204, HG02772, NA19149, HG02721, HG01912, HG02235, HG02013, HG02052, NA19312, HG03118
Known GenesDNAJC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586282
Frequency
Sample Size2504
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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