A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352915



Internal ID15199896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112664137..112666935hg38UCSC Ensembl
Innerchr13:112665137..112665935hg38UCSC Ensembl
Outerchr13:112663137..112667935hg38UCSC Ensembl
chr13:113318451..113321249hg19UCSC Ensembl
Innerchr13:113319451..113320249hg19UCSC Ensembl
Outerchr13:113317451..113322249hg19UCSC Ensembl
chr13:112366452..112369250hg18UCSC Ensembl
Innerchr13:112367452..112368250hg18UCSC Ensembl
Outerchr13:112365452..112370250hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688804
SamplesNA19240
Known GenesC13orf35
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352915
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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