A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993993



Internal ID7062788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5488559..5491672hg38UCSC Ensembl
Outerchr2:5628691..5631804hg19UCSC Ensembl
Outerchr2:5546142..5549255hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg383917
hg193917
hg183917
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564242
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993993
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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