A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998583



Internal ID7064453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47035536..47044058hg38UCSC Ensembl
Outerchr11:47057087..47065609hg19UCSC Ensembl
Outerchr11:47013663..47022185hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg388523
hg198523
hg188523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564138
SamplesHuRef
Known GenesC11orf49
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998583
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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