A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540518



Internal ID18394908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136276543..136277687hg38UCSC Ensembl
Outerchr6:136276320..136277885hg38UCSC Ensembl
Innerchr6:136597681..136598825hg19UCSC Ensembl
Outerchr6:136597458..136599023hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739265
Samples
Known GenesBCLAF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540518
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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