A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759543



Internal ID18733789
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 StatusS
Merged Variantsesv3560796
Supporting Variants
Samples
Known GenesPLCL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759543
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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