A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402186



Internal ID15249148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54233964..54242062hg38UCSC Ensembl
Innerchr19:54234964..54241062hg38UCSC Ensembl
Outerchr19:54232964..54243089hg38UCSC Ensembl
chr19:54737840..54745938hg19UCSC Ensembl
Innerchr19:54738840..54744938hg19UCSC Ensembl
Outerchr19:54736840..54746938hg19UCSC Ensembl
chr19:59429652..59437750hg18UCSC Ensembl
Innerchr19:59430652..59436750hg18UCSC Ensembl
Outerchr19:59428652..59438750hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388099
hg198099
hg188099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2026e59
Supporting Variantsessv8691635
SamplesNA12878
Known GenesLILRA6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402186
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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