A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309010



Internal ID15155959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38919908..38919909hg38UCSC Ensembl
Innerchr13:38919887..38919930hg38UCSC Ensembl
Outerchr13:38919886..38919931hg38UCSC Ensembl
chr13:39494045..39494046hg19UCSC Ensembl
Innerchr13:39494024..39494067hg19UCSC Ensembl
Outerchr13:39494023..39494068hg19UCSC Ensembl
chr13:38392045..38392046hg18UCSC Ensembl
Innerchr13:38392067..38392024hg18UCSC Ensembl
Outerchr13:38392023..38392068hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841948, essv7842498
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309010
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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