A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578307



Internal ID7049689
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988004
Supporting Variants
SamplesHuRef
Known GenesSMIM2-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578307
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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