A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618052



Internal ID7004935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93225081..93231474hg38UCSC Ensembl
Innerchr8:93225581..93230974hg38UCSC Ensembl
Outerchr8:93224081..93232474hg38UCSC Ensembl
chr8:94237310..94243703hg19UCSC Ensembl
Innerchr8:94237810..94243203hg19UCSC Ensembl
Outerchr8:94236310..94244703hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386394
hg196394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13260098, essv13260125, essv13260094, essv13260096, essv13260091, essv13260123, essv13260112, essv13260103, essv13260108, essv13260111, essv13260100, essv13260118, essv13260110, essv13260124, essv13260116, essv13260120, essv13260119, essv13260117, essv13260095, essv13260115, essv13260104, essv13260127, essv13260101, essv13260113, essv13260099, essv13260121, essv13260107, essv13260106, essv13260126, essv13260114, essv13260122, essv13260097, essv13260102, essv13260093, essv13260092, essv13260109, essv13260105
SamplesHG02339, HG02318, HG03521, HG03126, HG03172, HG03372, HG03095, HG03133, NA19201, HG03099, HG03135, HG02952, NA19383, NA19238, NA18867, HG02009, HG03343, HG02442, NA19327, NA18915, NA18910, HG03159, HG02976, HG03085, HG01241, HG01956, NA19035, HG03437, HG01915, NA19435, HG02771, NA19117, NA18501, HG03039, HG03097, HG03470, HG02808
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618052
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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