A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742345



Internal ID18716591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65662038..65662110hg38UCSC Ensembl
chr8:66574273..66574345hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3543598
Supporting Variants
Samples
Known GenesMTFR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742345
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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