A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988480



Internal ID6724451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78802133..78806272hg38UCSC Ensembl
Outerchr15:79094475..79098614hg19UCSC Ensembl
Outerchr15:76881530..76885669hg18UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg383352
hg193352
hg183352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565167
SamplesHuRef
Known GenesADAMTS7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988480
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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