A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540517



Internal ID18394907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136273530..136275293hg38UCSC Ensembl
Outerchr6:136273182..136275542hg38UCSC Ensembl
Innerchr6:136594668..136596431hg19UCSC Ensembl
Outerchr6:136594320..136596680hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382361
hg192361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739264
Samples
Known GenesBCLAF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540517
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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