A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1348104



Internal ID12511226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64686272..64686321hg38UCSC Ensembl
chr8:65598829..65598878hg19UCSC Ensembl
chr8:65761383..65761432hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3650169
SamplesHuRef
Known GenesCYP7B1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1348104
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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