A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991609



Internal ID6727573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:23178267..23184420hg38UCSC Ensembl
Outerchr18:20758231..20764384hg19UCSC Ensembl
Outerchr18:19012229..19018382hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386154
hg196154
hg186154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565711
SamplesHuRef
Known GenesCABLES1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991609
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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