A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565766



Internal ID18766842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32260031..32261031hg38UCSC Ensembl
Outerchr5:32259802..32261209hg38UCSC Ensembl
Innerchr5:32260137..32261137hg19UCSC Ensembl
Outerchr5:32259908..32261315hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381408
hg191408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764513
Samples
Known GenesMTMR12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565766
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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