A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988004



Internal ID7060304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44142132..44142201hg38UCSC Ensembl
chr13:44716268..44716337hg19UCSC Ensembl
chr13:43614268..43614337hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3578307
SamplesHuRef
Known GenesSMIM2-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988004
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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