A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998714



Internal ID7081890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:107812980..107819840hg38UCSC Ensembl
Outerchr13:108465328..108472188hg19UCSC Ensembl
Outerchr13:107263329..107270189hg18UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg386861
hg196861
hg186861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564369
SamplesHuRef
Known GenesFAM155A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998714
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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