A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010319



Internal ID6722409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51418177..51420833hg38UCSC Ensembl
Outerchr3:51455631..51458287hg19UCSC Ensembl
Outerchr3:51430671..51433327hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg383324
hg193324
hg183324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563920
SamplesHuRef
Known GenesVPRBP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010319
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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