A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007096



Internal ID7072189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:31280098..31289631hg38UCSC Ensembl
Outerchr13:31854235..31863768hg19UCSC Ensembl
Outerchr13:30752235..30761768hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg389534
hg199534
hg189534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563661
SamplesHuRef
Known GenesB3GALTL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007096
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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