A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565585



Internal ID7036967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:198078845..198086532hg38UCSC Ensembl
Outerchr2:198943569..198951256hg19UCSC Ensembl
Outerchr2:198651814..198659501hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387688
hg197688
hg187688
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988447
Supporting Variants
SamplesHuRef
Known GenesPLCL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565585
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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