A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7793807



Internal ID13143390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26191218..26191219hg38UCSC Ensembl
Innerchr13:26191199..26191238hg38UCSC Ensembl
Outerchr13:26191198..26191239hg38UCSC Ensembl
chr13:26765355..26765356hg19UCSC Ensembl
Innerchr13:26765336..26765375hg19UCSC Ensembl
Outerchr13:26765335..26765376hg19UCSC Ensembl
chr13:25663355..25663356hg18UCSC Ensembl
Innerchr13:25663375..25663336hg18UCSC Ensembl
Outerchr13:25663335..25663376hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38243
hg19243
hg18243
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304138
Supporting Variants
SamplesNA11831
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7793807
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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