A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998816



Internal ID6734748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123912505..123912510hg38UCSC Ensembl
Outerchr12:124397052..124397057hg19UCSC Ensembl
Outerchr12:122963005..122963010hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382976
hg192976
hg182976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565544
SamplesHuRef
Known GenesDNAH10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998816
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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