A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691632



Internal ID15063865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54224768..54243089hg38UCSC Ensembl
Innerchr19:54225769..54242062hg38UCSC Ensembl
Outerchr19:54223768..54244097hg38UCSC Ensembl
chr19:54728640..54746938hg19UCSC Ensembl
Innerchr19:54729640..54745938hg19UCSC Ensembl
Outerchr19:54727640..54747938hg19UCSC Ensembl
chr19:59420452..59438750hg18UCSC Ensembl
Innerchr19:59421452..59437750hg18UCSC Ensembl
Outerchr19:59419452..59439750hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3818322
hg1918299
hg1818299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3390177
Supporting Variants
SamplesNA19239
Known GenesLILRA6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691632
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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