A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005977



Internal ID7071071
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3579660
SamplesHuRef
Known GenesPTPRD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005977
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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