A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564113



Internal ID7035213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:155345079..155346856hg38UCSC Ensembl
Outerchr5:154724639..154726416hg19UCSC Ensembl
Outerchr5:154704832..154706609hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg385598
hg195598
hg185598
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991969
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564113
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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