A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563906



Internal ID7035006
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996212
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563906
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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