A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570611



Internal ID7041993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133583276..133589301hg38UCSC Ensembl
chr5:132918967..132924992hg19UCSC Ensembl
chr5:132946866..132952891hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386026
hg196026
hg186026
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989898
Supporting Variants
SamplesHuRef
Known GenesFSTL4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570611
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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