A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3623116



Internal ID12138752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66116677..66116677hg38UCSC Ensembl
chr8:67028912..67028912hg19UCSC Ensembl
chr8:67191466..67191466hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38189
hg19189
hg18189
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1737567
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3623116
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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