A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307138



Internal ID14807400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13478022..13478023hg38UCSC Ensembl
Innerchr19:13478000..13478045hg38UCSC Ensembl
Outerchr19:13477999..13478046hg38UCSC Ensembl
chr19:13588836..13588837hg19UCSC Ensembl
Innerchr19:13588814..13588859hg19UCSC Ensembl
Outerchr19:13588813..13588860hg19UCSC Ensembl
chr19:13449836..13449837hg18UCSC Ensembl
Innerchr19:13449859..13449814hg18UCSC Ensembl
Outerchr19:13449813..13449860hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg38133
hg19133
hg18133
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766880
SamplesNA11881
Known GenesCACNA1A
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307138
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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