A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003467



Internal ID6715599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144453956..144462543hg38UCSC Ensembl
Outerchr8:145679339..145687926hg19UCSC Ensembl
Outerchr8:145650147..145658734hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg388588
hg198588
hg188588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563508
SamplesHuRef
Known GenesCYHR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003467
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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