A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691550



Internal ID15106814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40685207..40689605hg38UCSC Ensembl
Innerchr19:40686207..40688605hg38UCSC Ensembl
Outerchr19:40684207..40690605hg38UCSC Ensembl
chr19:41191112..41195510hg19UCSC Ensembl
Innerchr19:41192112..41194510hg19UCSC Ensembl
Outerchr19:41190112..41196510hg19UCSC Ensembl
chr19:45882952..45887350hg18UCSC Ensembl
Innerchr19:45883952..45886350hg18UCSC Ensembl
Outerchr19:45881952..45888350hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg384399
hg194399
hg184399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432319
Supporting Variants
SamplesNA19240
Known GenesNUMBL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691550
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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