A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617361



Internal ID7004246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59813292..59816310hg38UCSC Ensembl
Innerchr8:59813306..59816297hg38UCSC Ensembl
Outerchr8:59813279..59816324hg38UCSC Ensembl
chr8:60725851..60728869hg19UCSC Ensembl
Innerchr8:60725865..60728856hg19UCSC Ensembl
Outerchr8:60725838..60728883hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383019
hg193019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13208883, essv13208884, essv13208888, essv13208876, essv13208882, essv13208885, essv13208879, essv13208893, essv13208887, essv13208874, essv13208890, essv13208877, essv13208880, essv13208881, essv13208892, essv13208886, essv13208875, essv13208878, essv13208872, essv13208891, essv13208873, essv13208889
SamplesNA21111, NA20863, NA21130, HG03913, HG02655, HG03595, HG03788, HG03624, HG02780, HG03844, HG04162, HG03742, HG04173, NA20851, HG03708, NA20888, HG04015, NA21088, HG03733, NA20852, HG03686, HG03741
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617361
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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