A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565128



Internal ID6689824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49374259..49381055hg38UCSC Ensembl
Outerchr13:49948395..49955191hg19UCSC Ensembl
Outerchr13:48846396..48853192hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg386797
hg196797
hg186797
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997002
Supporting Variants
SamplesHuRef
Known GenesCAB39L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565128
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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