A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8959895



Internal ID13746438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994592..36994606hg38UCSC Ensembl
Innerchr13:36994583..36994613hg38UCSC Ensembl
Outerchr13:36994569..36994627hg38UCSC Ensembl
chr13:37568729..37568743hg19UCSC Ensembl
Innerchr13:37568720..37568750hg19UCSC Ensembl
Outerchr13:37568706..37568764hg19UCSC Ensembl
chr13:36466729..36466743hg18UCSC Ensembl
Innerchr13:36466750..36466720hg18UCSC Ensembl
Outerchr13:36466706..36466764hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3440089
Supporting Variants
SamplesNA18489
Known GenesALG5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8959895
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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