A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428986



Internal ID14929256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29957294..29957310hg38UCSC Ensembl
Innerchr19:29957289..29957312hg38UCSC Ensembl
Outerchr19:29957276..29957328hg38UCSC Ensembl
chr19:30448201..30448217hg19UCSC Ensembl
Innerchr19:30448196..30448219hg19UCSC Ensembl
Outerchr19:30448183..30448235hg19UCSC Ensembl
chr19:35140041..35140057hg18UCSC Ensembl
Innerchr19:35140059..35140036hg18UCSC Ensembl
Outerchr19:35140023..35140075hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673685, essv8673683, essv8673684
SamplesNA19238, NA12891, NA12878
Known GenesURI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428986
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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