A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996813



Internal ID7080783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:39355568..39362933hg38UCSC Ensembl
Outerchr13:39929705..39937070hg19UCSC Ensembl
Outerchr13:38827705..38835070hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg387366
hg197366
hg187366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564128
SamplesHuRef
Known GenesLHFP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996813
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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