A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565577



Internal ID7036959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:21156551..21157299hg38UCSC Ensembl
Outerchr13:21730690..21731438hg19UCSC Ensembl
Outerchr13:20628690..20629438hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38749
hg19749
hg18749
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003302
Supporting Variants
SamplesHuRef
Known GenesSKA3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565577
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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