A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560796



Internal ID18761872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197894254..197896728hg38UCSC Ensembl
Outerchr2:197893617..197896934hg38UCSC Ensembl
Innerchr2:198758978..198761452hg19UCSC Ensembl
Outerchr2:198758341..198761658hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383318
hg193318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759543
Samples
Known GenesPLCL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560796
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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