A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691558



Internal ID14716867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41918060..41921258hg38UCSC Ensembl
Innerchr19:41919060..41920258hg38UCSC Ensembl
Outerchr19:41917060..41922258hg38UCSC Ensembl
chr19:42422212..42425410hg19UCSC Ensembl
Innerchr19:42423212..42424410hg19UCSC Ensembl
Outerchr19:42421212..42426410hg19UCSC Ensembl
chr19:47114052..47117250hg18UCSC Ensembl
Innerchr19:47115052..47116250hg18UCSC Ensembl
Outerchr19:47113052..47118250hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444133
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691558
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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