A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838490



Internal ID15006996
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 StatusS
Merged Variantsesv3307969
Supporting Variants
SamplesNA19238
Known GenesALG5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838490
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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