A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616738



Internal ID7003624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28453204..28454996hg38UCSC Ensembl
Innerchr8:28453205..28454995hg38UCSC Ensembl
Outerchr8:28453203..28454997hg38UCSC Ensembl
chr8:28310721..28312513hg19UCSC Ensembl
Innerchr8:28310722..28312512hg19UCSC Ensembl
Outerchr8:28310720..28312514hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381793
hg191793
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153203, essv13153223, essv13153226, essv13153191, essv13153228, essv13153200, essv13153194, essv13153213, essv13153206, essv13153207, essv13153221, essv13153190, essv13153193, essv13153189, essv13153219, essv13153212, essv13153215, essv13153169, essv13153214, essv13153184, essv13153195, essv13153218, essv13153174, essv13153179, essv13153204, essv13153210, essv13153225, essv13153216, essv13153180, essv13153224, essv13153171, essv13153172, essv13153188, essv13153185, essv13153197, essv13153177, essv13153173, essv13153208, essv13153222, essv13153209, essv13153192, essv13153227, essv13153217, essv13153183, essv13153170, essv13153181, essv13153186, essv13153199, essv13153211, essv13153175, essv13153198, essv13153205, essv13153202, essv13153201, essv13153182, essv13153176, essv13153196, essv13153220, essv13153178, essv13153187
SamplesHG03514, HG02890, NA19703, HG02337, HG03300, NA18486, HG03082, NA18944, HG03370, HG03246, HG03105, HG03479, NA19384, HG02281, HG03460, HG01067, HG03556, HG02315, NA18868, NA19372, HG03045, HG02885, HG03352, HG03225, HG03058, NA19025, HG03160, HG03511, HG02582, HG03547, HG03291, NA19391, HG01882, NA19236, NA18871, HG02508, NA20299, HG03382, HG02309, NA18853, HG03024, NA19225, NA18858, HG03567, HG03064, HG02813, HG02721, NA19835, HG03259, HG03433, NA19475, NA19323, HG03063, HG03060, HG03410, NA19030, NA19316, HG03376, NA19431, HG03265
Known GenesFBXO16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616738
Frequency
Sample Size2504
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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