A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998796



Internal ID7064549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161243818..161244256hg38UCSC Ensembl
Outerchr2:162100329..162100767hg19UCSC Ensembl
Outerchr2:161808575..161809013hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg387597
hg197597
hg187597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564611
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998796
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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