A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567781



Internal ID6692477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109089362..109089362hg38UCSC Ensembl
chr8:110101591..110101591hg19UCSC Ensembl
chr8:110170767..110170767hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010309
Supporting Variants
SamplesHuRef
Known GenesTRHR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567781
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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