A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565335



Internal ID7036717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:98655967..98660388hg38UCSC Ensembl
Outerchr2:99272430..99276851hg19UCSC Ensembl
Outerchr2:98638862..98643283hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg382670
hg192670
hg182670
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988416
Supporting Variants
SamplesHuRef
Known GenesMGAT4A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565335
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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