A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540519



Internal ID18394909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136278889..136279729hg38UCSC Ensembl
Outerchr6:136278690..136279767hg38UCSC Ensembl
Innerchr6:136600027..136600867hg19UCSC Ensembl
Outerchr6:136599828..136600905hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739266
Samples
Known GenesBCLAF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540519
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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