A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565646



Internal ID6690342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:45120086..45132601hg38UCSC Ensembl
Outerchr15:45412284..45424799hg19UCSC Ensembl
Outerchr15:43199576..43212091hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3812516
hg1912516
hg1812516
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002924
Supporting Variants
SamplesHuRef
Known GenesDUOX1, DUOXA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565646
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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