A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348764



Internal ID14849029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49319155..49319167hg38UCSC Ensembl
Innerchr19:49319132..49319190hg38UCSC Ensembl
Outerchr19:49319120..49319202hg38UCSC Ensembl
chr19:49822412..49822424hg19UCSC Ensembl
Innerchr19:49822389..49822447hg19UCSC Ensembl
Outerchr19:49822377..49822459hg19UCSC Ensembl
chr19:54514224..54514236hg18UCSC Ensembl
Innerchr19:54514259..54514201hg18UCSC Ensembl
Outerchr19:54514189..54514271hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866118
SamplesNA12005
Known GenesSLC6A16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348764
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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