A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565467



Internal ID6690163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179301017..179308786hg38UCSC Ensembl
Outerchr1:179270152..179277921hg19UCSC Ensembl
Outerchr1:177536775..177544544hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg387770
hg197770
hg187770
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990767
Supporting Variants
SamplesHuRef
Known GenesSOAT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565467
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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