A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004730



Internal ID6716853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72600967..72602001hg38UCSC Ensembl
Outerchr11:72312011..72313045hg19UCSC Ensembl
Outerchr11:71989659..71990693hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382620
hg192620
hg182620
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564041
SamplesHuRef
Known GenesPDE2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004730
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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