A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567496



Internal ID18421886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29893346..29937223hg38UCSC Ensembl
Outerchr6:29883224..29948546hg38UCSC Ensembl
Innerchr6:29861123..29905000hg19UCSC Ensembl
Outerchr6:29851001..29916323hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3865323
hg1965323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9766243
Samples
Known GenesHCG4B, HLA-A, HLA-H
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567496
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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