A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999596



Internal ID7082204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49168510..49169556hg38UCSC Ensembl
Outerchr19:49671767..49672813hg19UCSC Ensembl
Outerchr19:54363579..54364625hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382874
hg192874
hg182874
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565231
SamplesHuRef
Known GenesTRPM4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999596
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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