A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991352



Internal ID6727316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157481314..157483448hg38UCSC Ensembl
Outerchr2:158337826..158339960hg19UCSC Ensembl
Outerchr2:158046072..158048206hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383474
hg193474
hg183474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564669
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991352
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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