A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9754679



Internal ID18728925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5742279..5742341hg38UCSC Ensembl
chr19:5742290..5742352hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3555932
Supporting Variants
Samples
Known GenesCATSPERD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9754679
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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