A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568799



Internal ID7040181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124141836..124141836hg38UCSC Ensembl
chr8:125154077..125154077hg19UCSC Ensembl
chr8:125223258..125223258hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001834
Supporting Variants
SamplesHuRef
Known GenesFER1L6-AS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568799
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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