A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414118



Internal ID14914391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13240138..13241136hg38UCSC Ensembl
Innerchr19:13240137..13241137hg38UCSC Ensembl
Outerchr19:13239138..13242136hg38UCSC Ensembl
chr19:13350952..13351950hg19UCSC Ensembl
Innerchr19:13350951..13351951hg19UCSC Ensembl
Outerchr19:13349952..13352950hg19UCSC Ensembl
chr19:13211952..13212950hg18UCSC Ensembl
Innerchr19:13212951..13211951hg18UCSC Ensembl
Outerchr19:13210952..13213950hg18UCSC Ensembl
Cytoband19p13.13
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 Variantsessv8691404
SamplesNA19240
Known GenesCACNA1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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