A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565740



Internal ID7037122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:130498632..130503442hg38UCSC Ensembl
Outerchr5:129834325..129839135hg19UCSC Ensembl
Outerchr5:129862224..129867034hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg384811
hg194811
hg184811
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001332
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565740
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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