A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9744349



Internal ID18718595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134792840..134792910hg38UCSC Ensembl
chr9:137684686..137684756hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3545602
Supporting Variants
Samples
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9744349
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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