A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005399



Internal ID6717520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8385554..8396256hg38UCSC Ensembl
Outerchr4:8387281..8397983hg19UCSC Ensembl
Outerchr4:8438181..8448883hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3810703
hg1910703
hg1810703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564751
SamplesHuRef
Known GenesACOX3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005399
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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