A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350246



Internal ID14850511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168745869..168747367hg38UCSC Ensembl
Innerchr5:168746367..168746869hg38UCSC Ensembl
Outerchr5:168744869..168748367hg38UCSC Ensembl
chr5:168172874..168174372hg19UCSC Ensembl
Innerchr5:168173372..168173874hg19UCSC Ensembl
Outerchr5:168171874..168175372hg19UCSC Ensembl
chr5:168105452..168106950hg18UCSC Ensembl
Innerchr5:168106452..168105950hg18UCSC Ensembl
Outerchr5:168104452..168107950hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694633
SamplesNA19240
Known GenesSLIT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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