A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994118



Internal ID6730073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:58489845..58497470hg38UCSC Ensembl
Outerchr8:59402404..59410029hg19UCSC Ensembl
Outerchr8:59564958..59572583hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387626
hg197626
hg187626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565280
SamplesHuRef
Known GenesCYP7A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994118
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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