A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000322



Internal ID7065456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72398283..72405762hg38UCSC Ensembl
Outerchr11:72109327..72116806hg19UCSC Ensembl
Outerchr11:71786975..71794454hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg387480
hg197480
hg187480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563907
SamplesHuRef
Known GenesCLPB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000322
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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