A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001194



Internal ID6713333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8636115..8639192hg38UCSC Ensembl
Outerchr18:8636113..8639190hg19UCSC Ensembl
Outerchr18:8626113..8629190hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg383078
hg193078
hg183078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563783
SamplesHuRef
Known GenesRAB12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001194
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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