A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571083



Internal ID7042465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22765794..22765794hg38UCSC Ensembl
chr8:22623307..22623307hg19UCSC Ensembl
chr8:22679252..22679252hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988282
Supporting Variants
SamplesHuRef
Known GenesPEBP4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571083
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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