A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563547



Internal ID7036307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40508987..40523106hg38UCSC Ensembl
Outerchr19:41014894..41029013hg19UCSC Ensembl
Outerchr19:45706734..45720853hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3814120
hg1914120
hg1814120
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007999
Supporting Variants
SamplesHuRef
Known GenesSPTBN4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563547
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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