A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996212



Internal ID7080522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107914283..107914287hg38UCSC Ensembl
Outerchr12:108308060..108308064hg19UCSC Ensembl
Outerchr12:106832190..106832194hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383830
hg193830
hg183830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563906
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996212
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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