A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579660



Internal ID7051042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8484616..8484624hg38UCSC Ensembl
chr9:8484616..8484624hg19UCSC Ensembl
chr9:8474616..8474624hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005977
Supporting Variants
SamplesHuRef
Known GenesPTPRD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579660
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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