A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391681



Internal ID15238647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40687307..40689705hg38UCSC Ensembl
Innerchr19:40688307..40688705hg38UCSC Ensembl
Outerchr19:40686307..40690705hg38UCSC Ensembl
chr19:41193212..41195610hg19UCSC Ensembl
Innerchr19:41194212..41194610hg19UCSC Ensembl
Outerchr19:41192212..41196610hg19UCSC Ensembl
chr19:45885052..45887450hg18UCSC Ensembl
Innerchr19:45886052..45886450hg18UCSC Ensembl
Outerchr19:45884052..45888450hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691551
SamplesNA19239
Known GenesNUMBL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391681
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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