A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989476



Internal ID6725444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:964361..964816hg38UCSC Ensembl
Outerchr11:964361..964816hg19UCSC Ensembl
Outerchr11:954361..954816hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384775
hg194775
hg184775
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565177
SamplesHuRef
Known GenesAP2A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989476
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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