A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540516



Internal ID18394906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136262309..136267832hg38UCSC Ensembl
Outerchr6:136261081..136269403hg38UCSC Ensembl
Innerchr6:136583447..136588970hg19UCSC Ensembl
Outerchr6:136582219..136590541hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg388323
hg198323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739263
Samples
Known GenesBCLAF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540516
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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