A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616678



Internal ID6656874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25262879..25266885hg38UCSC Ensembl
Innerchr8:25262880..25266885hg38UCSC Ensembl
Outerchr8:25262879..25266886hg38UCSC Ensembl
chr8:25120395..25124401hg19UCSC Ensembl
Innerchr8:25120396..25124401hg19UCSC Ensembl
Outerchr8:25120395..25124402hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384007
hg194007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13142729, essv13142760, essv13142722, essv13142750, essv13142727, essv13142726, essv13142721, essv13142736, essv13142758, essv13142763, essv13142717, essv13142746, essv13142715, essv13142737, essv13142744, essv13142753, essv13142723, essv13142748, essv13142752, essv13142724, essv13142762, essv13142733, essv13142747, essv13142716, essv13142745, essv13142720, essv13142719, essv13142735, essv13142731, essv13142714, essv13142757, essv13142728, essv13142754, essv13142749, essv13142730, essv13142755, essv13142761, essv13142742, essv13142740, essv13142734, essv13142759, essv13142725, essv13142732, essv13142741, essv13142743, essv13142764, essv13142751, essv13142718, essv13142756, essv13142713, essv13142739, essv13142738
SamplesNA19030, NA19445, HG03064, NA18871, HG03478, HG03437, HG02284, HG02549, HG02255, HG03247, HG02974, NA19331, HG03265, HG02887, HG02884, NA19449, HG02323, NA18488, NA19236, NA19308, HG03159, NA19143, HG02870, NA18508, NA19309, HG02012, HG02703, HG02557, NA19429, HG03445, HG02595, NA19360, HG02537, HG03455, NA18522, HG02429, HG03514, HG03108, HG03363, HG03499, HG02645, NA18915, HG03267, HG02628, NA19818, HG02481, HG03240, NA19225, HG02721, HG03060, HG02798, HG03117
Known GenesDOCK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616678
Frequency
Sample Size2504
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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