A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672595



Internal ID15030875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994610..36994654hg38UCSC Ensembl
Innerchr13:36994624..36994638hg38UCSC Ensembl
Outerchr13:36994580..36994684hg38UCSC Ensembl
chr13:37568747..37568791hg19UCSC Ensembl
Innerchr13:37568761..37568775hg19UCSC Ensembl
Outerchr13:37568717..37568821hg19UCSC Ensembl
chr13:36466747..36466791hg18UCSC Ensembl
Innerchr13:36466775..36466761hg18UCSC Ensembl
Outerchr13:36466717..36466821hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3419066
Supporting Variants
SamplesNA19238
Known GenesALG5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672595
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer