A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9677646



Internal ID12827673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13478013..13478032hg38UCSC Ensembl
Innerchr19:13478009..13478036hg38UCSC Ensembl
Outerchr19:13477990..13478055hg38UCSC Ensembl
chr19:13588827..13588846hg19UCSC Ensembl
Innerchr19:13588823..13588850hg19UCSC Ensembl
Outerchr19:13588804..13588869hg19UCSC Ensembl
chr19:13449827..13449846hg18UCSC Ensembl
Innerchr19:13449850..13449823hg18UCSC Ensembl
Outerchr19:13449804..13449869hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345059
Supporting Variants
SamplesNA11881
Known GenesCACNA1A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9677646
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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