A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565008



Internal ID7036108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:116570014..116573537hg38UCSC Ensembl
Outerchr1:117112636..117116159hg19UCSC Ensembl
Outerchr1:116914159..116917682hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383524
hg193524
hg183524
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003883
Supporting Variants
SamplesHuRef
Known GenesCD58
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565008
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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