A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564562



Internal ID6689258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65868696..65878563hg38UCSC Ensembl
Outerchr11:65636167..65646034hg19UCSC Ensembl
Outerchr11:65392743..65402610hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg389868
hg199868
hg189868
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999644
Supporting Variants
SamplesHuRef
Known GenesEFEMP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564562
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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