A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994868



Internal ID6730818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69212970..69212972hg38UCSC Ensembl
chr9:71827886..71827888hg19UCSC Ensembl
chr9:71017706..71017708hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584901
SamplesHuRef
Known GenesTJP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994868
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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