A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565280



Internal ID6689976
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv994118
Supporting Variants
SamplesHuRef
Known GenesCYP7A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565280
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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