A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563939



Internal ID6688322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145514178..145523071hg38UCSC Ensembl
Outerchr4:146435330..146444223hg19UCSC Ensembl
Outerchr4:146654780..146663673hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg388894
hg198894
hg188894
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000240
Supporting Variants
SamplesHuRef
Known GenesSMAD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563939
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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