A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540312



Internal ID18394702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:110749814..110750358hg38UCSC Ensembl
Outerchr6:110749777..110750484hg38UCSC Ensembl
Innerchr6:111071017..111071561hg19UCSC Ensembl
Outerchr6:111070980..111071687hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739059
Samples
Known GenesCDK19
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540312
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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