A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837760



Internal ID13720344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38925486..38925487hg38UCSC Ensembl
Innerchr13:38925455..38925518hg38UCSC Ensembl
Outerchr13:38925454..38925519hg38UCSC Ensembl
chr13:39499623..39499624hg19UCSC Ensembl
Innerchr13:39499592..39499655hg19UCSC Ensembl
Outerchr13:39499591..39499656hg19UCSC Ensembl
chr13:38397623..38397624hg18UCSC Ensembl
Innerchr13:38397655..38397592hg18UCSC Ensembl
Outerchr13:38397591..38397656hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38162
hg19162
hg18162
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307908
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837760
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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