A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567019



Internal ID18421409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172345120..172345193hg38UCSC Ensembl
chr5:171772124..171772197hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765766
Samples
Known GenesSH3PXD2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3567019
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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