A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346749



Internal ID14847014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47489783..47490781hg38UCSC Ensembl
Innerchr19:47489782..47490782hg38UCSC Ensembl
Outerchr19:47488783..47491781hg38UCSC Ensembl
chr19:47993040..47994038hg19UCSC Ensembl
Innerchr19:47993039..47994039hg19UCSC Ensembl
Outerchr19:47992040..47995038hg19UCSC Ensembl
chr19:52684852..52685850hg18UCSC Ensembl
Innerchr19:52685851..52684851hg18UCSC Ensembl
Outerchr19:52683852..52686850hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691576
SamplesNA19239
Known GenesNAPA, NAPA-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346749
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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