A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307969



Internal ID15154917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994616..36994617hg38UCSC Ensembl
Innerchr13:36994567..36994666hg38UCSC Ensembl
Outerchr13:36994566..36994667hg38UCSC Ensembl
chr13:37568753..37568754hg19UCSC Ensembl
Innerchr13:37568704..37568803hg19UCSC Ensembl
Outerchr13:37568703..37568804hg19UCSC Ensembl
chr13:36466753..36466754hg18UCSC Ensembl
Innerchr13:36466803..36466704hg18UCSC Ensembl
Outerchr13:36466703..36466804hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838490
SamplesNA19238
Known GenesALG5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307969
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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