A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567554



Internal ID18768630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32487298..32545723hg38UCSC Ensembl
Outerchr6:32484075..32556277hg38UCSC Ensembl
Innerchr6:32455075..32513500hg19UCSC Ensembl
Outerchr6:32451852..32524054hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3872203
hg1972203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv384e215
Supporting Variantsessv9766301
Samples
Known GenesHLA-DRB5, HLA-DRB6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567554
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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