A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640533



Internal ID7027308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38939125..38941264hg38UCSC Ensembl
Innerchr17:38939197..38941193hg38UCSC Ensembl
Outerchr17:38939054..38941336hg38UCSC Ensembl
chr17:37095378..37097517hg19UCSC Ensembl
Innerchr17:37095450..37097446hg19UCSC Ensembl
Outerchr17:37095307..37097589hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382140
hg192140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15674172, essv15674190, essv15674199, essv15674177, essv15674166, essv15674184, essv15674162, essv15674173, essv15674192, essv15674178, essv15674187, essv15674198, essv15674169, essv15674189, essv15674175, essv15674197, essv15674174, essv15674180, essv15674164, essv15674186, essv15674171, essv15674183, essv15674181, essv15674193, essv15674196, essv15674185, essv15674167, essv15674188, essv15674195, essv15674182, essv15674170, essv15674179, essv15674191, essv15674194, essv15674163, essv15674168, essv15674165, essv15674176
SamplesHG03121, HG02583, HG03052, HG03247, HG02337, HG03449, NA20294, NA19098, NA18519, HG02811, NA19307, HG02840, HG02854, HG02645, NA19922, HG02562, NA19383, HG02642, HG02427, HG03073, HG03054, NA19984, NA20299, HG02817, NA19031, HG02283, HG02585, NA19160, HG02635, HG02813, NA19401, HG02799, NA19324, HG01108, HG03039, HG03097, HG03060, HG03470
Known GenesFBXO47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640533
Frequency
Sample Size2504
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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