A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550890



Internal ID18405280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92347854..92347914hg38UCSC Ensembl
chr13:93000107..93000167hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749637
Samples
Known GenesGPC5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550890
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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