A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545605



Internal ID18746681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134805813..134805877hg38UCSC Ensembl
chr9:137697659..137697723hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9744352
Samples
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545605
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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